P28223 · 5HT2A_HUMAN

  • Protein
    5-hydroxytryptamine receptor 2A
  • Gene
    HTR2A
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

147150100150200250300350400450
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV66326971
rs1951099887
2D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs5329242683I>FVariant of uncertain significance (Ensembl)TOPMed
TCGA novel4L>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs13074189055C>YTOPMed
gnomAD
rs14188794826E>GgnomAD
COSV66328120
rs748483027
6E>Kcosmic curated
Ensembl
TCGA novel8N>K
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs187003384910S>CTOPMed
gnomAD
COSV66327199
rs1870033849
10S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs195109950211L>FEnsembl
COSV105932122
rs545813583
12S>Ncosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs126697896113S>*gnomAD
rs74785584714T>AExAC
gnomAD
rs77892946114T>IExAC
TOPMed
gnomAD
rs75481223915T>MExAC
gnomAD
TCGA novel15T>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs175767599816N>STOPMed
rs76593611717S>TExAC
gnomAD
rs75012078019M>IExAC
TOPMed
gnomAD
rs105254008419M>KTOPMed
rs105254008419M>TTOPMed
rs18504020021L>I1000Genomes
ExAC
rs76226414623D>GExAC
gnomAD
rs77452354324D>NExAC
gnomAD
COSV66328450
rs1805055
25T>Icosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_003448
COSV66327897
rs1805055
25T>N
UniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs180505525T>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs129571577926R>KgnomAD
rs77004319229S>GExAC
rs133265538829S>TTOPMed
gnomAD
rs74590991830N>YExAC
TOPMed
gnomAD
rs195109841531D>ETOPMed
rs77702399131D>NExAC
TOPMed
gnomAD
rs77702399131D>YExAC
TOPMed
gnomAD
rs141459834632F>LTOPMed
gnomAD
CA658798137
RCV000615738
RCV001836646
rs6313
34S>=
Schizophrenia, susceptibility to (ClinVar)
Benign (ClinVar)ClinGen
ClinVar
dbSNP
rs117589286934S>YgnomAD
rs124618655535G>AgnomAD
COSV107496224
rs1046592807
35G>Rcosmic curated
1000Genomes
TOPMed
gnomAD
rs86847535736E>KEnsembl
rs117530945337A>VTOPMed
gnomAD
rs195109789638N>DEnsembl
rs37502498938N>KESP
ExAC
TOPMed
gnomAD
rs104502495839T>ATOPMed
rs195109763939T>IEnsembl
rs76848954940S>CExAC
rs77850182840S>TExAC
gnomAD
COSV10109652641D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs145953701243F>IVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs145953701243F>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV6632724245W>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV6632775246T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs74927550646T>IExAC
TOPMed
gnomAD
rs75565477848D>HExAC
TOPMed
gnomAD
rs75565477848D>NExAC
TOPMed
gnomAD
rs156632298149S>FEnsembl
COSV66326961
rs1222375103
52R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
rs122237510352R>GgnomAD
rs57279612452R>L1000Genomes
ExAC
TOPMed
gnomAD
COSV66327832
rs572796124
52R>Qcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs89628467557C>FTOPMed
gnomAD
rs105671263358E>KTOPMed
gnomAD
rs140398020759G>AgnomAD
rs76338695560C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs76338695560C>YExAC
gnomAD
TCGA novel61L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs159344784461L>VEnsembl
COSV66327373
rs1157228569
63P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV106547197
rs779934468
64S>Lcosmic curated
Ensembl
rs117087634464S>PTOPMed
rs77679068168L>FExAC
gnomAD
rs146393221569L>RTOPMed
rs144277123871L>VTOPMed
gnomAD
TCGA novel75N>K
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
TCGA novel75N>T
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs76086884576W>LExAC
gnomAD
rs77346657278A>VExAC
gnomAD
COSV66327600
rs539430264
83V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs136408087687L>VTOPMed
gnomAD
COSV10109683188T>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs195109586391G>RgnomAD
rs74538774493I>TExAC
gnomAD
rs121539162594L>FTOPMed
gnomAD
CM157842
COSV66327517
rs780635453
95V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV10109660396I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs37098520797M>TESP
ExAC
TOPMed
gnomAD
rs104373280899V>ATOPMed
gnomAD
COSV10109675599V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs868179048100S>FEnsembl
rs1453338877102E>DTOPMed
gnomAD
COSV66326741
rs751219044
102E>Kcosmic curated
ExAC
gnomAD
rs1951095212108A>STOPMed
rs1274149032109T>PTOPMed
gnomAD
TCGA novel113L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV66328474
rs1951094910
118I>Tcosmic curated
Ensembl
rs765850021118I>VExAC
gnomAD
rs1188200387121M>TgnomAD
rs760051588122L>MExAC
gnomAD
rs1219929320123L>MEnsembl
rs766423438126L>VExAC
gnomAD
rs1219309188127V>DgnomAD
rs1264306261127V>IgnomAD
rs1951094539128M>VTOPMed
gnomAD
rs1486595409129P>ATOPMed
rs1486595409129P>STOPMed
rs550284437130V>M1000Genomes
gnomAD
TCGA novel131S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1476621961132M>TTOPMed
rs1951094172137Y>CTOPMed
rs1246174393138G>RgnomAD
COSV101096610138G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1324037908139Y>CTOPMed
gnomAD
rs754348347140R>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs962495795140R>WTOPMed
gnomAD
rs1951062583141W>*TOPMed
TCGA novel
rs1330614688
141W>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
gnomAD
COSV66327028
rs2138255797
144P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV66327301144P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1425158265146K>QgnomAD
TCGA novel149A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1453149357150V>AgnomAD
COSV66326629151W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1951062407151W>RTOPMed
rs1407993241152I>LTOPMed
gnomAD
rs1407993241152I>VTOPMed
gnomAD
rs1566321460153Y>*gnomAD
rs750463163155D>EExAC
TOPMed
gnomAD
TCGA novel155D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1241920940156V>LTOPMed
rs1241920940156V>MTOPMed
rs1951062220157L>FEnsembl
rs941907825158F>LTOPMed
COSV66326953
rs2138255710
160T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV66327667162S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101096617163I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV101096705164M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1593446554165H>PEnsembl
COSV66326974
rs770851114
168A>Tcosmic curated
ExAC
TOPMed
gnomAD
COSV66328210
rs1201998699
170S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
TCGA novel170S>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV101096609171L>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66327005
rs1593446534
172D>Acosmic curated
Ensembl
rs771701886173R>CExAC
gnomAD
rs1333799288173R>HgnomAD
COSV101096643
COSV99059994
rs778682687
175V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs778682687175V>LExAC
TOPMed
gnomAD
COSV66327556
rs1334203728
176A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs1237371930177I>LTOPMed
gnomAD
rs1593446516179N>SEnsembl
rs1168578195180P>TTOPMed
gnomAD
rs377125584181I>TEnsembl
rs1566321370182H>NEnsembl
rs372673346182H>PExAC
TCGA novel182H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs201406168183H>PExAC
gnomAD
COSV101096762183H>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1951061341184S>NTOPMed
COSV66327203
rs1951061309
185R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs756580138185R>HVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV66327196
COSV66327496
186F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66326657187N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1593446493187N>IEnsembl
COSV66327238188S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66327018190T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs775763093190T>SEnsembl
rs757305952197I>TExAC
gnomAD
VAR_013901
COSV66327836
rs6304
197I>V
UniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV66327025198A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs368857032199V>IESP
TOPMed
rs746403605204V>IgnomAD
rs567570031205G>V1000Genomes
rs1238138714206I>MgnomAD
TCGA novel208M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV101096694210I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1239567673210I>TgnomAD
rs770042749210I>VExAC
gnomAD
rs1487469623211P>RgnomAD
rs907368969212V>FTOPMed
gnomAD
rs907368969212V>ITOPMed
gnomAD
rs143289722213F>LESP
ExAC
TOPMed
gnomAD
TCGA novel213F>W
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs781643370214G>VExAC
gnomAD
rs756253920215L>IEnsembl
rs1289458135215L>PgnomAD
COSV66327695216Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104699561
rs751588437
218D>Ncosmic curated
ExAC
TOPMed
gnomAD
COSV66326797
rs1428173433
219S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs138155943221V>FESP
ExAC
TOPMed
gnomAD
rs138155943221V>IESP
ExAC
TOPMed
gnomAD
rs138155943221V>LESP
ExAC
TOPMed
gnomAD
rs752855190222F>LExAC
gnomAD
rs1163223359223K>RgnomAD
rs868647452224E>*TOPMed
gnomAD
rs766250729224E>AExAC
TOPMed
gnomAD
rs1566298347224E>DgnomAD
rs766250729224E>GExAC
TOPMed
gnomAD
COSV66326686
rs868647452
224E>Kcosmic curated
TOPMed
gnomAD
rs766250729224E>VExAC
TOPMed
gnomAD
COSV66327042225G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1876423828226S>NTOPMed
gnomAD
COSV66328125227C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1489114037227C>YgnomAD
COSV66327551
rs147859130
230A>Tcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV101096552
COSV66328566
231D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66327934
rs914903401
231D>Ncosmic curated
gnomAD
COSV66328110
COSV66328592
232D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66328110
COSV66328592
232D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66328595233N>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs145933855234F>CESP
ExAC
TOPMed
gnomAD
COSV101096702234F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel234F>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs762726109235V>IExAC
gnomAD
rs1566298314237I>FEnsembl
COSV66328150
rs2138337424
238G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
TCGA novel239S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV66327488240F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75634836241V>LExAC
gnomAD
rs75634836241V>MExAC
gnomAD
rs747095073245I>NExAC
TOPMed
gnomAD
rs747095073245I>TExAC
TOPMed
gnomAD
rs866682056246P>SEnsembl
COSV105325398
rs1876419777
248T>Icosmic curated
Ensembl
rs1566298291249I>TEnsembl
rs1876418917250M>IEnsembl
rs1399652132250M>TTOPMed
gnomAD
COSV101096868251V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66326760254Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1171632717254Y>NgnomAD
rs753008959255F>LExAC
gnomAD
rs755964470258I>VExAC
TOPMed
gnomAD
rs1456886855260S>AgnomAD
rs1593424008266T>AEnsembl
rs1876416900266T>ITOPMed
rs1876416740267L>WTOPMed
gnomAD
rs1200139033270S>GgnomAD
COSV101096800
COSV66326834
271D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs757334801271D>YExAC
TOPMed
gnomAD
rs751532511274T>IExAC
TOPMed
gnomAD
COSV101096704
rs533383790
275R>Lcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs533383790275R>P1000Genomes
ExAC
TOPMed
gnomAD
COSV104699576
rs533383790
275R>Qcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV101096560
rs762338994
275R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs1023428680276A>GgnomAD
rs776914593277K>RExAC
TOPMed
gnomAD
COSV101096801279A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1876414198280S>CgnomAD
rs771279570280S>PExAC
gnomAD
COSV66328584280S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1357593690282S>GgnomAD
rs772230929284L>FExAC
TOPMed
gnomAD
rs772230929284L>VExAC
TOPMed
gnomAD
COSV66326570
rs1876413137
285P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
rs1876412955286Q>RTOPMed
rs748134081287S>GExAC
COSV66326594
COSV66327249
288S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66326673288S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV66326594
COSV66327249
288S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs779212618294L>IExAC
gnomAD
rs755187812294L>PExAC
TOPMed
gnomAD
rs755187812294L>RExAC
TOPMed
gnomAD
rs1439084277295F>LgnomAD
rs749521476296Q>RExAC
TOPMed
gnomAD
COSV101096811
rs757096279
297R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV101096695
rs376305063
297R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV66327231
rs1034308865
298S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs1034308865298S>WTOPMed
gnomAD
TCGA novel299I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1313092116300H>RgnomAD
COSV66326523
rs763899284
302E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV101096863
COSV66326853
rs192924120
303P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1416507158303P>S1000Genomes
TOPMed
gnomAD
rs764945857304G>EExAC
gnomAD
rs776251555305S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs760992919306Y>*ExAC
gnomAD
rs1041110431307T>AEnsembl
COSV66328174
rs773797673
307T>Icosmic curated
ExAC
TOPMed
gnomAD
rs773797673307T>RExAC
TOPMed
gnomAD
COSV101096887308G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1006892485309R>MEnsembl
rs774363482310R>GExAC
gnomAD
rs768848048310R>KExAC
TOPMed
gnomAD
TCGA novel310R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs768848048310R>TExAC
TOPMed
gnomAD
rs1203636382312M>ITOPMed
rs749574714312M>VExAC
TOPMed
gnomAD
rs1280758470313Q>HTOPMed
gnomAD
rs1233136299313Q>KTOPMed
gnomAD
rs1876405250317N>STOPMed
TCGA novel321A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1484050895321A>VTOPMed
gnomAD
rs369925691322C>*ExAC
TOPMed
gnomAD
COSV66328320322C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1214835841323K>EgnomAD
COSV66327267
rs1876404089
324V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs1876403922327I>LTOPMed
rs752673964328V>IExAC
TOPMed
gnomAD
rs778452148330F>LExAC
gnomAD
rs1363615193330F>STOPMed
rs1319986191331L>PgnomAD
rs749858096332F>LEnsembl
rs754457998333V>MExAC
gnomAD
rs550284242335M>VEnsembl
COSV66328447336W>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1469262171338P>RTOPMed
gnomAD
COSV101096854338P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs765972863339F>CExAC
TOPMed
gnomAD
COSV66326840
rs765972863
339F>Ycosmic curated
ExAC
TOPMed
gnomAD
TCGA novel340F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs761046368344I>VExAC
rs1399126722345M>TTOPMed
gnomAD
COSV101096918
rs1876401456
346A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
TCGA novel346A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV66328429
rs750689390
347V>Icosmic curated
ExAC
gnomAD
rs767921386348I>VExAC
TOPMed
gnomAD
TCGA novel349C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs142571649351E>GESP
ExAC
COSV101096592355E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs774903370355E>KExAC
TOPMed
gnomAD
rs1367343925357V>ITOPMed
gnomAD
rs768897319358I>TExAC
TOPMed
gnomAD
COSV101096581
COSV66327917
359G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1420966949359G>ETOPMed
gnomAD
rs1488135101360A>SgnomAD
COSV66326590362L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1207403329362L>PgnomAD
COSV66327719363N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs376705680363N>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1334965529364V>AEnsembl
rs2138336763364V>MEnsembl
TCGA novel365F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1245551395367W>*gnomAD
COSV66326860
rs1245551395
367W>Ccosmic curated
gnomAD
rs1337083147368I>SgnomAD
rs1876397612369G>AEnsembl
COSV66326791
rs1876397756
369G>Scosmic curated
TOPMed
TCGA novel369G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV66326900372S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105325397
rs377018655
386T>Ncosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV101096736
rs1389863499
387Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1294072419392S>LgnomAD
rs754511156393R>QExAC
TOPMed
gnomAD
rs1462498007393R>WgnomAD
COSV66328236394Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel395I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV66327010398Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1425316592399Y>*gnomAD
rs1169496638400K>NTOPMed
gnomAD
rs753293644400K>QExAC
rs1250182685401E>GTOPMed
gnomAD
COSV66327141
rs779691722
401E>Kcosmic curated
ExAC
TOPMed
gnomAD
rs779691722401E>QExAC
TOPMed
gnomAD
COSV107495854
rs1423640595
402N>Kcosmic curated
gnomAD
TCGA novel402N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV101096767
rs2138336623
403K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV66327076404K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1876394196404K>TTOPMed
TCGA novel405P>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV101096900
COSV104430057
405P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104430057
rs187285218
405P>Tcosmic curated
1000Genomes
ExAC
TOPMed
rs372505805409I>FESP
ExAC
TOPMed
gnomAD
rs752143487410L>IExAC
gnomAD
rs1469838383411V>GTOPMed
gnomAD
rs1876392163414I>MEnsembl
rs940553607414I>RTOPMed
rs1876392493414I>VTOPMed
gnomAD
rs763140129415P>LExAC
TOPMed
gnomAD
COSV101096910415P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs769988053417L>FExAC
gnomAD
rs907675185417L>STOPMed
rs759732977419Y>CExAC
gnomAD
rs1593423658420K>NLikely benign (Ensembl)Ensembl
rs1058576421S>FExAC
gnomAD
rs1058576421S>YExAC
gnomAD
rs771799117424L>FExAC
TOPMed
gnomAD
rs1374006392425Q>HgnomAD
rs1876390130425Q>REnsembl
COSV101096851426M>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1330143343426M>VgnomAD
rs1876389181430K>NEnsembl
TCGA novel431N>E
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1170479111431N>HgnomAD
TCGA novel431N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV66326812431N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel432S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1876388709432S>LTOPMed
rs1876388866432S>PEnsembl
rs1464800403433K>NTOPMed
gnomAD
rs778840840434Q>RExAC
gnomAD
rs1876388073435D>HTOPMed
gnomAD
rs1876388073435D>NTOPMed
gnomAD
rs145449685436A>DESP
ExAC
TOPMed
gnomAD
rs145449685436A>GESP
ExAC
TOPMed
gnomAD
rs1876387773436A>TTOPMed
rs145449685436A>VESP
ExAC
TOPMed
gnomAD
rs1456019953437K>RgnomAD
rs1389449316438T>ITOPMed
rs1389449316438T>KTOPMed
rs139754496441N>KESP
ExAC
TOPMed
gnomAD
rs199763367442D>GEnsembl
rs779600920443C>GExAC
gnomAD
rs1876385943443C>YTOPMed
rs1876385424445M>ITOPMed
rs1198961924445M>TgnomAD
rs755632356446V>AExAC
gnomAD
rs201018904447A>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
VAR_013902
RCV000959734
RCV003960700
rs6308
447A>V
HTR2A-related disorder (ClinVar)
Likely benign (Ensembl, ClinVar)UniProt
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV66327040449G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1876384364449G>RTOPMed
rs757585313450K>EExAC
gnomAD
rs768425509452H>LExAC
TOPMed
gnomAD
rs768425509452H>PExAC
TOPMed
gnomAD
rs768425509452H>RExAC
TOPMed
gnomAD
VAR_003449
COSV66327120
rs6314
452H>Y
UniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs557086481453S>C1000Genomes
ExAC
gnomAD
COSV105325393
rs557086481
453S>Fcosmic curated
1000Genomes
ExAC
gnomAD
rs753241217453S>TExAC
gnomAD
COSV66326519454E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs541770641454E>Q1000Genomes
ExAC
TOPMed
gnomAD
COSV66327063455E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1010455882456A>PTOPMed
gnomAD
rs1010455882456A>STOPMed
gnomAD
rs1378958837456A>VgnomAD
rs766569786460N>SExAC
COSV66327445462D>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs548771552462D>EExAC
TOPMed
gnomAD
COSV66326771
rs774063354
462D>Ncosmic curated
ExAC
TOPMed
gnomAD
rs774063354462D>YExAC
TOPMed
gnomAD
COSV66326650
COSV66326676
rs749275325
463G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1593423544464V>GEnsembl
rs775379459465N>DExAC
rs769223465467K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs1593423534468V>GEnsembl
rs889852055468V>LTOPMed
gnomAD
TCGA novel470C>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs780723077470C>WExAC
TOPMed
gnomAD
rs1876379582470C>YTOPMed
gnomAD
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