F2Z2R4 · F2Z2R4_HUMAN

  • Protein
    ERCC excision repair 6 like 2
  • Gene
    ERCC6L2
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

120720406080100120140160180200
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
RCV002010024
rs1827240979
2D>GVariant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs7683621452D>NVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs7764250223P>AExAC
gnomAD
RCV001932283
rs151308487
3P>LBenign (Ensembl)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001515732
RCV001821820
RCV003980541
rs151308487
3P>Q
ERCC6L2-related disorder (ClinVar)
Benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs7696116474S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs18272417554S>PgnomAD
rs7696116474S>WExAC
TOPMed
gnomAD
rs12205839165A>PTOPMed
gnomAD
rs7607496776P>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV002048643
rs760749677
6P>QVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5139208
RCV000480857
RCV001270090
rs778926161
7Q>*
Pancytopenia-developmental delay syndrome (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5139209
RCV000224070
RCV003929924
rs139286981
7Q>H
ERCC6L2-related disorder (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs18272433637Q>PEnsembl
rs13880111978P>RTOPMed
gnomAD
rs8658192268P>STOPMed
gnomAD
rs9512997859R>CgnomAD
rs9512997859R>GgnomAD
rs13500603399R>HgnomAD
rs13500603399R>PgnomAD
rs9512997859R>SgnomAD
rs75078324710A>SExAC
TOPMed
gnomAD
rs75078324710A>TExAC
TOPMed
gnomAD
RCV001338390
rs758889766
10A>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs98271399712T>ATOPMed
gnomAD
rs78071639912T>IExAC
gnomAD
rs98271399712T>STOPMed
gnomAD
rs74645020113S>*ExAC
TOPMed
gnomAD
rs74645020113S>LExAC
TOPMed
gnomAD
rs78090468615K>EExAC
gnomAD
rs54357696015K>RVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs156418938316D>GEnsembl
rs76936653516D>NExAC
gnomAD
rs75558380517I>MExAC
TOPMed
gnomAD
rs182755063217I>VgnomAD
RCV002269531
rs573203064
18W>RVariant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs182755149920P>ATOPMed
rs75217460920P>LExAC
TOPMed
gnomAD
rs182755149920P>STOPMed
rs182755205921G>RTOPMed
rs75573867223R>KExAC
gnomAD
rs137566890624C>YTOPMed
RCV002035987
rs1317606477
26A>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs124665280927P>RgnomAD
rs99796383727P>STOPMed
gnomAD
rs182755327328S>FgnomAD
rs77729557428S>TExAC
gnomAD
RCV001988795
rs2132512497
29P>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV56629803
rs770701064
32G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs77873211636E>KExAC
gnomAD
rs74577158337A>TExAC
gnomAD
rs37493278639I>MVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
RCV001965912
rs1827554617
39I>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs77672358241S>AExAC
gnomAD
rs76181180341S>CExAC
rs76181180341S>FExAC
rs182755588442I>TEnsembl
rs105116289042I>VTOPMed
gnomAD
rs144351817544V>MTOPMed
gnomAD
rs123609149245D>NVariant of uncertain significance (Ensembl)gnomAD
rs77329844145D>VExAC
TOPMed
gnomAD
rs97386069247N>HTOPMed
rs116025393249K>NTOPMed
gnomAD
rs182755753350S>*TOPMed
rs213251293551F>CEnsembl
rs182755789852A>VTOPMed
RCV001820371
RCV001869720
rs148041136
54V>IVariant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001337074
RCV001476456
RCV003169579
rs141719745
55L>V
Pancytopenia-developmental delay syndrome (ClinVar)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs213251304556Y>HEnsembl
rs213251307057A>G1000Genomes
rs76007433362R>SExAC
gnomAD
rs14603446164I>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs96365335064I>TEnsembl
RCV001871051
rs146034461
64I>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs141005420965P>SVariant of uncertain significance (Ensembl)gnomAD
rs141005420965P>TVariant of uncertain significance (Ensembl)gnomAD
RCV001317639
rs752189445
68Q>RVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs182756047769L>*gnomAD
rs134805912069L>FVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs134805912069L>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs77151051270Q>*ExAC
gnomAD
rs182756101070Q>RgnomAD
rs54636034271E>GEnsembl
rs125610324671E>KgnomAD
rs156418970872V>EEnsembl
RCV001952456
rs754908597
75V>GVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs77740117975V>IExAC
gnomAD
rs134074381776K>QTOPMed
gnomAD
rs75694206076K>RExAC
gnomAD
rs18461179179P>A1000Genomes
rs36778577579P>LESP
ExAC
TOPMed
gnomAD
rs36778577579P>RESP
ExAC
TOPMed
gnomAD
rs18461179179P>S1000Genomes
RCV001974297
rs1183139537
80R>KVariant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs138653818781N>TTOPMed
rs182756336282L>PEnsembl
rs182756319782L>VEnsembl
rs74568366983I>TExAC
TOPMed
gnomAD
rs147175194784F>IgnomAD
rs75169471085D>YEnsembl
RCV001822614
RCV001885349
rs2132513580
86D>EVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs156418976486D>YEnsembl
rs182756416887E>ATOPMed
rs118109492289L>SgnomAD
RCV002006697
rs2132513643
90E>QVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs137829758191K>EgnomAD
rs146751444291K>NgnomAD
RCV002021927
RCV002573523
rs138730206
95P>A
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs137459547695P>RgnomAD
rs130964285096N>DgnomAD
rs156418983396N>SEnsembl
COSV99998968
rs779856407
97R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV56631290
RCV001922977
rs747031724
97R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs76974594098K>QExAC
gnomAD
rs147572119799F>LgnomAD
rs77338704399F>VExAC
gnomAD
rs1301948379100P>LTOPMed
gnomAD
rs200286500101S>LTOPMed
gnomAD
rs763229325101S>PExAC
TOPMed
gnomAD
rs763229325101S>TExAC
TOPMed
gnomAD
RCV001866332
rs573947709
102S>FVariant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs564457309104V>IEnsembl
rs774802251105A>PExAC
TOPMed
gnomAD
rs2084161493106F>LTOPMed
rs1196634375110D>HgnomAD
rs902638468110D>VTOPMed
rs2132514202111N>DEnsembl
RCV002046526
RCV003348777
rs759988195
111N>K
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1234961688111N>STOPMed
rs2132514272112G>REnsembl
rs1827570035114S>CEnsembl
rs1827570035114S>FEnsembl
rs753131470115I>VExAC
TOPMed
gnomAD
rs761294202117Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs1461160091119I>NTOPMed
gnomAD
rs1461160091119I>TTOPMed
gnomAD
rs1827570899119I>VgnomAD
COSV99999071
rs1428222125
rs1428222125,COSV99999071
120N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1827571900124R>TTOPMed
RCV000974250
RCV003918548
rs61746533
125D>E
ERCC6L2-related disorder (ClinVar)
Benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201929399125D>V1000Genomes
ExAC
gnomAD
RCV000902882
RCV001818757
RCV002537563
rs146075543
127Q>E
Inborn genetic diseases (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs750151681128R>SExAC
gnomAD
rs370249357129E>DVariant of uncertain significance (Ensembl)ESP
TOPMed
gnomAD
rs1226932332130G>*gnomAD
rs1266314193131T>IgnomAD
COSV56629308
rs1211849973
132R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
RCV001906835
rs917357317
132R>WVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001875722
rs1827574436
135Y>CVariant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
RCV000967135
RCV001819073
rs61740729
136G>EBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1427744857137H>YgnomAD
rs777667044139I>VExAC
gnomAD
rs749393023140H>DExAC
TOPMed
gnomAD
rs749393023140H>NExAC
TOPMed
gnomAD
rs368518723140H>RESP
ExAC
TOPMed
gnomAD
rs749393023140H>YExAC
TOPMed
gnomAD
rs372469673142G>RESP
ExAC
TOPMed
gnomAD
rs1436466769143G>WgnomAD
rs1587834767144C>GEnsembl
rs1188825563144C>YgnomAD
rs560188182145I>V1000Genomes
ExAC
gnomAD
rs761045031147G>CExAC
gnomAD
rs1313920772147G>DgnomAD
rs761045031147G>SExAC
gnomAD
RCV001302292
rs1827577321
150M>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1239762231150M>VgnomAD
rs1564190148151G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs764681006151G>VExAC
gnomAD
rs1231696615153G>VgnomAD
rs1827577946155T>IgnomAD
rs1330002358157Q>HgnomAD
rs1020500906158V>FTOPMed
gnomAD
rs1020500906158V>LTOPMed
gnomAD
rs1309721234161F>LgnomAD
rs1282254465163A>VgnomAD
RCV001997538
rs2132606990
165V>AVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs746049395165V>IExAC
gnomAD
rs200568420167H>PVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1398369631167H>QTOPMed
rs200568420167H>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs772372184167H>YExAC
gnomAD
rs775665068168K>EExAC
gnomAD
rs1186758650169K>MTOPMed
gnomAD
rs1252029812170G>RgnomAD
rs1828551593171T>ATOPMed
RCV001925316
rs149385968
172R>CVariant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs755468545172R>HTOPMed
gnomAD
rs1049704790175I>TTOPMed
gnomAD
RCV002017362
rs2132607207
175I>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs77857685179M>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1564203163180P>LEnsembl
rs1201706554186S>GTOPMed
gnomAD
rs762364993186S>NExAC
gnomAD
rs1201706554186S>RTOPMed
gnomAD
rs772747987188K>IExAC
gnomAD
rs762471695189K>NExAC
gnomAD
rs1189690341190E>VTOPMed
gnomAD
rs1425555473191P>HTOPMed
rs1828554479191P>STOPMed
rs1256783072193S>PTOPMed
COSV56628714
rs751247643
193S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs1303388759194S>CTOPMed
gnomAD
rs1258809031194S>PgnomAD
rs1303388759194S>YTOPMed
gnomAD
rs1587863035195T>AEnsembl
rs759371269195T>IExAC
gnomAD
rs374911552196A>PESP
ExAC
TOPMed
gnomAD
rs181919944200G>R1000Genomes
ExAC
TOPMed
gnomAD
rs1337089169200G>V
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
dbSNP
gnomAD
rs1829549071202V>AEnsembl
rs747882125203S>GExAC
TOPMed
gnomAD
rs1272415536205H>YgnomAD
rs1829549690207G>REnsembl
rs1486170285207G>VgnomAD
rs779295458208*>WExAC
gnomAD
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