F5H3A2 · F5H3A2_HUMAN

  • Protein
    Plexin C1
  • Gene
    PLXNC1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

130720406080100120140160180200220240260280300
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV99312219
rs116512321
1M>?cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV515707102G>Ccosmic curated
rs7800945663T>IExAC
gnomAD
rs7800945663T>KExAC
gnomAD
COSV51573732
rs747289625
4R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs7685551014R>LExAC
TOPMed
gnomAD
rs7685551014R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
COSV51580937
rs1244214849
5Q>Kcosmic curated
TOPMed
COSV51569231
COSV51573099
7E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51569231
COSV51573099
7E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs11620615878L>FgnomAD
rs76541857911I>MExAC
TOPMed
gnomAD
rs143674552911I>VTOPMed
gnomAD
rs94005669012D>NTOPMed
gnomAD
rs77410205413S>CExAC
gnomAD
COSV10805010513S>Icosmic curated
rs90109687113S>NEnsembl
rs196650337814S>FgnomAD
rs196650337814S>YgnomAD
rs89591440016V>LTOPMed
gnomAD
rs89591440016V>MTOPMed
gnomAD
rs196650484317I>LEnsembl
rs128919697619E>QTOPMed
rs196650582821G>ATOPMed
COSV10586142121G>Vcosmic curated
rs196650608822I>LTOPMed
gnomAD
rs213614694423T>AEnsembl
rs196650663323T>NTOPMed
rs14518557528I>MESP
ExAC
TOPMed
gnomAD
rs196650736828I>TEnsembl
rs196650854330H>YEnsembl
rs37279468131Y>CESP
ExAC
TOPMed
gnomAD
rs147095672632E>KTOPMed
rs76487544533I>MExAC
gnomAD
rs196770378033I>TTOPMed
rs127959862433I>VgnomAD
COSV9931238134S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs89482150834S>AEnsembl
rs139841610235N>DTOPMed
rs122233411435N>STOPMed
gnomAD
rs101188904136G>EEnsembl
rs126118734636G>RTOPMed
gnomAD
rs196770638137S>FEnsembl
rs196770728638T>ATOPMed
rs100970141438T>STOPMed
COSV5157873039I>Lcosmic curated
rs19950086639I>M1000Genomes
TOPMed
gnomAD
rs132552804539I>VgnomAD
rs196770882440K>EEnsembl
rs196770912042F>LEnsembl
rs53559521843K>T1000Genomes
gnomAD
rs101988806745I>MTOPMed
gnomAD
rs119556984045I>RTOPMed
gnomAD
rs119556984045I>TTOPMed
gnomAD
COSV5156964746A>Scosmic curated
rs148016971046A>TgnomAD
rs146564159047N>STOPMed
COSV9931265647N>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs87911113448F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Ensembl
dbSNP
rs117428284849T>SgnomAD
rs196801644251D>VTOPMed
rs122229020552V>MTOPMed
gnomAD
rs196801699354Y>*gnomAD
rs196801727955S>ATOPMed
rs136083085555S>LTOPMed
gnomAD
rs196801840156D>EgnomAD
rs122380300556D>VTOPMed
gnomAD
rs136907612357D>EgnomAD
COSV5158165157D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs130079186357D>YgnomAD
COSV5157679760H>Ycosmic curated
rs124967983263L>STOPMed
gnomAD
rs20086106764P>LEnsembl
rs55576507064P>SExAC
TOPMed
gnomAD
rs143294677865D>VgnomAD
rs20186387566S>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV9931400370Q>Kcosmic curated
rs118389630471D>EgnomAD
COSV5158459371D>Hcosmic curated
rs76302526071D>NEnsembl
rs56794485772V>M1000Genomes
ExAC
gnomAD
COSV5158343373Q>Kcosmic curated
rs74887923173Q>LExAC
gnomAD
rs77037043274G>AExAC
gnomAD
rs37699020875K>NESP
ExAC
TOPMed
gnomAD
rs196804032776R>GTOPMed
gnomAD
rs122468094576R>STOPMed
gnomAD
rs77236300377H>QExAC
gnomAD
COSV5157890778R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs128553388078R>PgnomAD
COSV5157783478R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs196804163079G>REnsembl
rs196804194179G>VEnsembl
COSV9931369779G>Wcosmic curated
COSV5157484882K>Tcosmic curated
COSV51569197
COSV51572923
rs1200282972
83F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
rs130435171784K>IgnomAD
rs196804304784K>NTOPMed
COSV5158632287E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs20166597190L>M1000Genomes
ExAC
TOPMed
gnomAD
rs75145992295S>LExAC
TOPMed
gnomAD
rs196804548596T>ITOPMed
rs14790524299A>EESP
ExAC
TOPMed
gnomAD
rs14790524299A>GESP
ExAC
TOPMed
gnomAD
COSV5158179299A>Vcosmic curated
COSV51573487101H>Pcosmic curated
rs1477286789102S>CTOPMed
COSV51582367102S>Fcosmic curated
COSV99314082104L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs773496033105E>GExAC
gnomAD
rs1968169086106K>EEnsembl
COSV51584993107L>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51571692109R>*cosmic curated
rs1244394733111I>MTOPMed
gnomAD
rs1968169791112W>SEnsembl
rs1193255370113S>NTOPMed
rs1592999905113S>REnsembl
COSV99313901
rs1968170631
115P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
COSV99313820
rs1267515224
117S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV51577737
rs531024061
119A>Vcosmic curated
1000Genomes
TOPMed
gnomAD
COSV51571896120P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA6721299
COSV107255240
RCV000513388
rs115408156
121F>YLikely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV51579326122A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108050099122A>Scosmic curated
COSV99312595124K>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs767613674124K>RExAC
gnomAD
rs752703774125Y>*ExAC
rs1425740409126F>SgnomAD
rs755934474127F>LExAC
gnomAD
COSV51584122128D>*cosmic curated
COSV99313498130L>Fcosmic curated
rs1968174241131D>YTOPMed
COSV99313908
rs753472884
132A>Tcosmic curated
ExAC
TOPMed
gnomAD
rs756915393132A>VExAC
gnomAD
rs1968175240134A>STOPMed
gnomAD
COSV51571809135E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51573885138K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99314213
rs905522550
140T>Acosmic curated
Ensembl
rs1593000282142P>TTOPMed
rs377767081144V>FESP
ExAC
TOPMed
gnomAD
COSV99313638
rs377767081
144V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs377767081144V>LESP
ExAC
TOPMed
gnomAD
rs189549726145V>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV99313706145V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1296359911146H>YgnomAD
COSV51572416
COSV99314088
148W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1593000465149K>QTOPMed
COSV51573036151N>Scosmic curated
COSV99313148152S>Icosmic curated
COSV51575479152S>Ncosmic curated
COSV99312497154P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51581506155L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1239889645155L>PgnomAD
rs747506006156R>CExAC
TOPMed
gnomAD
rs755505068156R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs781592014159V>IExAC
TOPMed
gnomAD
rs748512190162L>VExAC
gnomAD
rs1163947191164N>KVariant of uncertain significance (Ensembl)gnomAD
rs1369014770165P>LTOPMed
COSV99313100
rs1418861442
165P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1464081586171I>VgnomAD
rs749525873173K>RExAC
TOPMed
gnomAD
rs749525873173K>TExAC
TOPMed
gnomAD
rs917910951176H>NEnsembl
COSV51576377
rs776462415
179G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1316683657180C>STOPMed
gnomAD
rs1449730703182S>*gnomAD
rs1316787959189M>VgnomAD
COSV99313415191A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1968409576192F>LEnsembl
COSV104576540193S>Fcosmic curated
rs367723378194L>PESP
TOPMed
gnomAD
rs1024270568195T>ATOPMed
gnomAD
COSV105101130195T>Kcosmic curated
rs1024270568195T>STOPMed
gnomAD
COSV51582518196E>Kcosmic curated
rs969409682196E>QTOPMed
gnomAD
rs1968411455197Q>HEnsembl
rs750007915199L>IExAC
TOPMed
gnomAD
COSV51569901200G>Ecosmic curated
rs1968412019200G>RTOPMed
gnomAD
rs1968724738202E>KEnsembl
COSV99313118203A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1968725019205T>IVariant of uncertain significance (Ensembl)Ensembl
rs1968725019205T>NVariant of uncertain significance (Ensembl)Ensembl
rs754293608206N>KExAC
TOPMed
gnomAD
COSV51575695210Y>Ncosmic curated
COSV51578368211A>Vcosmic curated
rs1441873247
COSV51578887
212K>NgnomAD
cosmic curated
rs1968726936213D>NTOPMed
gnomAD
COSV105101114214I>Fcosmic curated
rs757529377215P>LExAC
TOPMed
gnomAD
rs1565877431215P>SEnsembl
rs1200677380216T>AEnsembl
COSV99313318219E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105100989219E>Kcosmic curated
rs746130238219E>QExAC
gnomAD
COSV99313734
rs143848397
220E>*cosmic curated
gnomAD
COSV105101140
rs143848397
220E>Kcosmic curated
gnomAD
COSV51572935
COSV99313734
220E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs201903968221V>A1000Genomes
ExAC
gnomAD
rs1206415321221V>LgnomAD
rs780192296223S>FExAC
gnomAD
rs776396484224Y>*ExAC
gnomAD
rs748034092225Y>*ExAC
gnomAD
rs1310271251227A>VgnomAD
rs772973759228I>LExAC
gnomAD
rs368738985229R>GESP
ExAC
TOPMed
gnomAD
rs1357729366231L>FgnomAD
rs1198592292233P>LgnomAD
rs1459370881234L>FgnomAD
rs773809246235S>AExAC
TOPMed
gnomAD
rs1315008954235S>LTOPMed
rs773809246235S>TExAC
TOPMed
gnomAD
COSV99313790237S>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51573897239M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51578004
rs1250871447
241E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV51581317242F>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs766923908242F>VExAC
gnomAD
rs775130513244T>IExAC
TOPMed
gnomAD
COSV51581802244T>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs775130513244T>SExAC
TOPMed
gnomAD
rs761231417245Q>RExAC
TOPMed
gnomAD
rs764746729246E>QExAC
gnomAD
COSV99312591248K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1968746561252N>DEnsembl
COSV51580762
rs1968746962
252N>Scosmic curated
TOPMed
rs1475252639253E>*gnomAD
rs1180150457255N>KTOPMed
gnomAD
rs1192231774256E>KgnomAD
COSV51569923
rs1968748910
257E>Gcosmic curated
TOPMed
rs139622716257E>KEnsembl
rs1467090784259A>VTOPMed
gnomAD
COSV51578240260L>Fcosmic curated
rs893249109261T>ITOPMed
gnomAD
COSV51572323263I>Fcosmic curated
rs1968750705265K>QgnomAD
rs1196658975265K>TTOPMed
gnomAD
COSV51584480266Y>*cosmic curated
rs774262002266Y>HExAC
gnomAD
COSV51579856266Y>Ncosmic curated
rs143293787267I>M1000Genomes
ExAC
TOPMed
gnomAD
rs1342983582268V>ATOPMed
gnomAD
COSV51569762
rs150282069
268V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2136238290270Y>CEnsembl
rs1321216604270Y>HTOPMed
rs774840536272D>GExAC
gnomAD
rs1968875781275L>IgnomAD
rs1239003863276N>SgnomAD
rs1283385659279E>KgnomAD
rs1215806699280R>GgnomAD
rs1565878714280R>KEnsembl
rs1246111552282R>*TOPMed
gnomAD
rs766577937282R>LExAC
TOPMed
gnomAD
rs766577937282R>QExAC
TOPMed
gnomAD
COSV105101112283G>Ecosmic curated
rs781262518287A>TExAC
gnomAD
rs2136242277288Q>HEnsembl
COSV99313313288Q>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105861456290Q>*cosmic curated
rs1438803334290Q>EgnomAD
rs1157115670291L>FgnomAD
rs1331162154293H>LTOPMed
gnomAD
rs1331162154293H>RTOPMed
gnomAD
rs1968883319293H>YTOPMed
gnomAD
COSV51569581296V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs745723171298F>LExAC
gnomAD
rs1180322532298F>YEnsembl
COSV51569546299D>Ncosmic curated
rs1376666668299D>YTOPMed
gnomAD
rs1968887099301K>REnsembl
COSV51571121302K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51570215303K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1306641603304C>*gnomAD
rs368139262304C>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ESP
ExAC
dbSNP
gnomAD
rs368139262304C>Y1000Genomes
ESP
ExAC
gnomAD
rs1968888128306W>*Ensembl
COSV51577686306W>Ccosmic curated
rs372684506307M>IESP
ExAC
TOPMed
gnomAD
rs2136242492308*>YEnsembl
VAR_050602
rs11107500
1499E>KUniProt
Ensembl
dbSNP
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