O15144 · ARPC2_HUMAN

  • Protein
    Actin-related protein 2/3 complex subunit 2
  • Gene
    ARPC2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

130020406080100120140160180200220240260280300
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV998268335E>*cosmic curated
rs7694619437N>KExAC
TOPMed
gnomAD
rs12261203898N>KgnomAD
rs9161369168N>SEnsembl
rs14573952259R>GTOPMed
gnomAD
rs16892802529R>HTOPMed
rs127924216011I>VEnsembl
rs122093338412E>ATOPMed
COSV9982685912E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99826925
rs1689280553
14T>Mcosmic curated
Ensembl
rs168928079116A>GgnomAD
rs74880401816A>PExAC
gnomAD
rs74880401816A>TExAC
gnomAD
rs769151697
COSV55285957
19F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
cosmic curated
rs74915258821N>SExAC
TOPMed
gnomAD
rs168928125922A>VTOPMed
gnomAD
rs76244645423A>TExAC
TOPMed
gnomAD
rs146466526524A>STOPMed
gnomAD
rs146466526524A>TTOPMed
gnomAD
rs37193095124A>VESP
ExAC
TOPMed
gnomAD
rs89011443725G>RgnomAD
COSV55286220
rs200038830
28P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs20003883028P>Q1000Genomes
ExAC
TOPMed
gnomAD
rs20003883028P>R1000Genomes
ExAC
TOPMed
gnomAD
rs117600000831V>IVariant of uncertain significance (Ensembl)TOPMed
gnomAD
TCGA novel32E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs136727846433V>LgnomAD
rs14446877834T>IESP
TOPMed
gnomAD
rs97612128235F>CgnomAD
rs97612128235F>SgnomAD
rs131876106637D>GTOPMed
COSV10440344338F>Lcosmic curated
rs97738539839D>NTOPMed
gnomAD
TCGA novel41V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs132554090643Y>CTOPMed
COSV5528661644H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs140369710645I>VTOPMed
COSV5528413846S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs77312541648P>LExAC
gnomAD
COSV5528625748P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs168956634648P>TTOPMed
gnomAD
TCGA novel50G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs76064349553T>AExAC
gnomAD
rs76613616756M>IExAC
gnomAD
rs141148223056M>LTOPMed
gnomAD
rs168956673757V>FTOPMed
rs168956680258S>NTOPMed
rs75368575259I>VExAC
gnomAD
COSV5528438962K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9982659164Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs143663968465K>RgnomAD
rs142566848666E>DEnsembl
rs75454660069A>SExAC
gnomAD
rs168956714669A>VTOPMed
COSV9982694670H>Rcosmic curated
rs116289727073D>NTOPMed
gnomAD
COSV5528398974E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs137494473075L>STOPMed
gnomAD
rs76499919579V>AExAC
COSV55283895
rs1689717651
79V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs19957844081G>RExAC
TOPMed
gnomAD
COSV5528563681G>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99826631
rs763650783
83F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
gnomAD
rs75114797085V>AExAC
gnomAD
COSV5528641087P>Scosmic curated
COSV5528510089S>Lcosmic curated
rs143147459492N>DTOPMed
COSV9982669893V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5528482696L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs123998323097Y>CgnomAD
COSV55283588102L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV55283588102L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV55284067
rs1351238168
103P>Lcosmic curated
TOPMed
gnomAD
rs1351238168103P>RTOPMed
gnomAD
rs373428220103P>TESP
ExAC
TOPMed
gnomAD
rs1689835723104A>VTOPMed
rs1264912358106K>QgnomAD
rs1461667881106K>RTOPMed
gnomAD
rs1461667881106K>TTOPMed
gnomAD
rs1803065107D>NEnsembl
rs1803065107D>YEnsembl
rs267599209108S>FEnsembl
rs11551125110V>LEnsembl
TCGA novel112Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs757883904113A>GEnsembl
rs774270199113A>TEnsembl
rs201975910115M>I1000Genomes
ExAC
TOPMed
gnomAD
rs1689836407115M>TEnsembl
rs1195160454115M>VgnomAD
COSV55286486118R>*cosmic curated
COSV99826579118R>Lcosmic curated
COSV104403445
rs772187884
118R>Qcosmic curated
ExAC
gnomAD
rs1182051322120C>STOPMed
gnomAD
rs777765139122A>SExAC
gnomAD
COSV99826891122A>Tcosmic curated
rs11551126123S>FEnsembl
TCGA novel125F>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV105136198125F>Lcosmic curated
COSV55284213127K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1367590667127K>RTOPMed
rs201701777128Y>C1000Genomes
ExAC
gnomAD
rs775360539130Q>KExAC
TOPMed
gnomAD
rs1028736942133E>KEnsembl
TCGA novel134E>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs147649871136K>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1399025004138G>VgnomAD
rs774147455139E>GExAC
gnomAD
COSV108088414139E>Qcosmic curated
rs1470401008140N>KTOPMed
gnomAD
rs1330957504140N>STOPMed
rs984436737143V>ITOPMed
gnomAD
rs749920529144I>TExAC
gnomAD
COSV55284794145H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1317405428145H>YgnomAD
COSV55286440146Y>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel147R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1173967968148D>HTOPMed
gnomAD
COSV55286343
rs1173967968
148D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1689839271148D>VEnsembl
rs865949510149D>NEnsembl
rs1689839430151T>NTOPMed
COSV55284406152M>Vcosmic curated
TCGA novel153Y>C
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1689854430153Y>HEnsembl
rs1184327596155E>AgnomAD
COSV55286107155E>Gcosmic curated
COSV55286280155E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99826645156S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs142249772158K>QESP
ExAC
TOPMed
gnomAD
COSV107326649159D>Ncosmic curated
TCGA novel159D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1689854725160R>GTOPMed
rs2106154199161V>I1000Genomes
rs1689854811162T>KgnomAD
rs1689855031165F>LEnsembl
TCGA novel165F>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV55285875167T>Icosmic curated
rs764236963169F>LExAC
TOPMed
gnomAD
rs1400701893171D>NTOPMed
gnomAD
TCGA novel172D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1689855498173D>GTOPMed
rs757282923173D>NExAC
TOPMed
gnomAD
COSV104403444174D>Gcosmic curated
COSV55285125
rs781466543
174D>Ncosmic curated
ExAC
gnomAD
rs1344894388
COSV99826805
179K>N1000Genomes
gnomAD
cosmic curated
COSV55286821182M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV55284032184E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1462999640184E>GgnomAD
rs1232628770185F>VgnomAD
rs1289903288186K>RTOPMed
TCGA novel188G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV55283528
rs1433485062
189R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
TCGA novel189R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1574592281191A>PEnsembl
rs2106157583192S>IEnsembl
rs770592563193H>NExAC
gnomAD
rs770592563193H>YExAC
gnomAD
rs1690009284194T>ATOPMed
COSV55283873194T>Icosmic curated
rs1690009284194T>PTOPMed
rs757210844196P>LExAC
gnomAD
COSV99826691196P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1041935451199L>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1174444575203R>MTOPMed
gnomAD
COSV55285670205P>Hcosmic curated
COSV99826780206P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1690010134207L>PTOPMed
COSV55286927207L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs769353604210K>NExAC
TOPMed
gnomAD
COSV55285557211D>Ecosmic curated
rs1690010494211D>HEnsembl
rs775859131212T>RExAC
gnomAD
COSV99826689213D>Gcosmic curated
rs1690010648213D>VTOPMed
gnomAD
rs1299517747214A>STOPMed
gnomAD
rs140913952215A>TESP
ExAC
TOPMed
gnomAD
rs774805325216V>GExAC
gnomAD
rs539486804218D>NExAC
gnomAD
rs1325114414220I>NTOPMed
gnomAD
rs1325114414220I>TTOPMed
gnomAD
COSV105878505
rs1690011332
221G>Scosmic curated
gnomAD
rs2106157655223I>VEnsembl
COSV55283826227L>Mcosmic curated
rs1225118375227L>VTOPMed
gnomAD
rs1690125245228F>LEnsembl
COSV55285385
rs1028406646
229P>Lcosmic curated
TOPMed
COSV55284320
rs1362317685
230R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
COSV55285318
rs1348826847
230R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs751557406233N>SExAC
TOPMed
gnomAD
COSV105136163234A>Scosmic curated
rs757044338235S>GExAC
gnomAD
rs1342933002236A>TgnomAD
COSV55283918237R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV55284011
rs767343116
237R>Qcosmic curated
ExAC
gnomAD
rs763524611238D>GgnomAD
rs1364747200238D>HTOPMed
gnomAD
rs755789501239N>DExAC
gnomAD
rs1417583733239N>STOPMed
gnomAD
COSV105878509241I>Ncosmic curated
COSV55286507244I>Ncosmic curated
rs770584750246T>AEnsembl
rs779395678246T>MExAC
TOPMed
gnomAD
COSV99041015248R>Lcosmic curated
COSV55283616
rs895649590
248R>Qcosmic curated
TOPMed
gnomAD
rs369055854248R>WESP
ExAC
TOPMed
gnomAD
COSV55285888250Y>Ccosmic curated
rs536542860251L>V1000Genomes
ExAC
gnomAD
COSV55285241254H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV55283494255I>Mcosmic curated
rs1690128055258S>FEnsembl
COSV99826732259K>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV106406775
rs1473278974
260A>Vcosmic curated
gnomAD
rs1159182893263H>NgnomAD
rs1690140171264T>IEnsembl
rs758995418265R>CExAC
gnomAD
rs1257537129265R>HTOPMed
COSV105878502265R>Lcosmic curated
rs778243101266M>TExAC
gnomAD
TCGA novel266M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs771259247267R>QExAC
TOPMed
gnomAD
rs747382487267R>WExAC
TOPMed
gnomAD
rs746119094268A>TExAC
gnomAD
rs769896904268A>VExAC
gnomAD
rs1321551360270T>MgnomAD
COSV99826934275K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs376913425275K>RESP
ExAC
TOPMed
gnomAD
COSV108088338
rs764789818
279R>Ccosmic curated
ExAC
TOPMed
gnomAD
COSV55284943
rs1041531687
279R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
COSV99826821279R>Scosmic curated
rs777996603280A>SEnsembl
rs1267492794281R>CTOPMed
gnomAD
rs188696608281R>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV55286370
rs188696608
281R>Lcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1178833701282P>ATOPMed
gnomAD
rs1178833701282P>STOPMed
gnomAD
COSV55285846283D>Vcosmic curated
COSV55286028
COSV55286028,COSV99826615
COSV99826615
285E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV55286028
rs757612121
285E>Kcosmic curated
ExAC
TOPMed
gnomAD
COSV55285821286K>Rcosmic curated
COSV107326774288E>*cosmic curated
rs1430599695290K>RgnomAD
rs1343696871291T>IgnomAD
rs1690142845292I>TgnomAD
COSV55284994293T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs374047289293T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2106162931296T>A1000Genomes
rs769777853297F>LExAC
gnomAD
COSV55287088299S>Ycosmic curated
COSV55283882
rs2106162944
300R>Ccosmic curated
Ensembl
rs1803064300R>HTOPMed
gnomAD
rs1803064300R>LTOPMed
gnomAD
TCGA novel301*>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA
rs1574599391301*>SEnsembl
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