A0A494C114 · A0A494C114_HUMAN

  • Protein
    Neuregulin 1
  • Gene
    NRG1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

120720406080100120140160180200
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7508827502S>CExAC
TOPMed
gnomAD
rs8678118973E>*TOPMed
gnomAD
rs13666695353E>DTOPMed
gnomAD
rs8678118973E>QTOPMed
gnomAD
rs9478075184R>CTOPMed
rs8680780164R>HTOPMed
gnomAD
rs1496984436E>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1496984436E>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs13050779978R>KTOPMed
gnomAD
rs18334566828R>STOPMed
rs13050779978R>TTOPMed
gnomAD
rs13664265889G>RTOPMed
gnomAD
rs13664265889G>STOPMed
gnomAD
rs14549415910K>EESP
ExAC
TOPMed
gnomAD
CA225649
RCV000084681
rs367543159
10K>NClinGen
ClinVar
TOPMed
dbSNP
gnomAD
COSV55154873
rs755224827
11G>Ecosmic curated
ExAC
gnomAD
rs137589634111G>RgnomAD
rs75522482711G>VExAC
gnomAD
rs77774787312K>EExAC
TOPMed
gnomAD
rs74906606112K>NExAC
rs77774787312K>QExAC
TOPMed
gnomAD
rs183346148112K>TTOPMed
rs102047476515K>NTOPMed
gnomAD
rs147935555816K>NTOPMed
gnomAD
rs77872281418R>GExAC
gnomAD
rs123429000918R>PgnomAD
rs96757879219G>ATOPMed
gnomAD
rs96757879219G>DTOPMed
gnomAD
rs74581748919G>RExAC
gnomAD
rs74581748919G>SExAC
gnomAD
rs118111658820S>CgnomAD
rs77496007221G>AExAC
TOPMed
gnomAD
rs77496007221G>DExAC
TOPMed
gnomAD
rs36787209321G>SESP
ExAC
TOPMed
gnomAD
rs138587835122K>NgnomAD
rs76036125923K>TExAC
TOPMed
gnomAD
rs99748809724P>LTOPMed
gnomAD
rs183347358425E>QTOPMed
rs183347527126S>PEnsembl
rs86728492026S>YEnsembl
COSV105851032
rs1443353672
27A>Ecosmic curated
TOPMed
gnomAD
rs144335367227A>VTOPMed
gnomAD
COSV106377111
rs1833480271
28A>Vcosmic curated
Ensembl
rs145499741429G>DTOPMed
gnomAD
rs138121874629G>SgnomAD
rs145499741429G>VTOPMed
gnomAD
rs97899545330S>ITOPMed
gnomAD
rs131635838830S>RTOPMed
gnomAD
rs76209752830S>RExAC
TOPMed
gnomAD
rs183348462431Q>KEnsembl
rs76556987732S>GExAC
gnomAD
rs75095931632S>IExAC
TOPMed
gnomAD
rs75095931632S>NExAC
TOPMed
gnomAD
rs76350260833P>LExAC
gnomAD
rs76809581637P>SExAC
gnomAD
rs392499938R>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_009307
COSV55177787
rs3924999
38R>Q
UniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs142648144241E>KTOPMed
rs101722748042M>IEnsembl
rs184325426242M>LEnsembl
rs128091451144S>CTOPMed
gnomAD
rs75206169346E>GExAC
TOPMed
gnomAD
CA225651
COSV55163583
RCV000084682
rs367543160
47S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs122533545748A>TTOPMed
gnomAD
rs7967448653L>PEnsembl
rs126070339454V>AEnsembl
COSV55157563
rs764980982
54V>Fcosmic curated
ExAC
TOPMed
gnomAD
rs76498098254V>IExAC
TOPMed
gnomAD
rs76498098254V>LExAC
TOPMed
gnomAD
rs184326228255L>FEnsembl
rs36979418156R>LESP
ExAC
TOPMed
gnomAD
COSV106376756
rs369794181
56R>Qcosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV55168583
rs750264919
56R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs184326356857C>*gnomAD
rs146892626459T>AgnomAD
rs146892626459T>PgnomAD
rs122572691959T>STOPMed
gnomAD
rs74688055160S>IExAC
TOPMed
gnomAD
rs74688055160S>NExAC
TOPMed
gnomAD
rs104690501161S>FgnomAD
rs140421532262E>KTOPMed
gnomAD
rs130078863664S>FTOPMed
gnomAD
rs100495671265S>CTOPMed
gnomAD
rs100495671265S>FTOPMed
gnomAD
rs78073987766L>FExAC
TOPMed
gnomAD
rs78073987766L>VExAC
TOPMed
gnomAD
rs86653382867R>KEnsembl
rs74780447069K>QExAC
gnomAD
rs76945217669K>RExAC
TOPMed
gnomAD
rs144414048870W>CgnomAD
rs11212197671F>LgnomAD
rs124533740573N>HgnomAD
rs77269562273N>KExAC
gnomAD
rs74969004575N>SExAC
TOPMed
gnomAD
rs54818815577L>S1000Genomes
ExAC
gnomAD
COSV105850980
RCV000999022
RCV004030248
rs201451670
78N>IVariant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs20145167078N>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs118448065879R>*gnomAD
COSV55153761
rs1233929760
79R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs116111818281N>KgnomAD
rs184327978283P>TEnsembl
rs156373260785N>DEnsembl
rs146637642786I>LEnsembl
rs138649800986I>TgnomAD
rs142474885188I>MgnomAD
rs116873291089Q>RTOPMed
rs77560914591K>*ExAC
gnomAD
rs87924433291K>RTOPMed
gnomAD
rs125654915092P>SgnomAD
rs118824608893G>ETOPMed
gnomAD
rs120374602594K>TTOPMed
gnomAD
rs76401552796E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
COSV55167026
COSV55174404
rs146885321
98R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA Cosmic
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV55170695
rs762008628
98R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs76200862898R>LExAC
TOPMed
gnomAD
COSV55174404
rs146885321
98R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs184512816699I>VTOPMed
rs148350929102A>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752516072103S>TExAC
gnomAD
rs1845130760105A>TEnsembl
rs866780402105A>VEnsembl
rs1157465580109E>DgnomAD
RCV001376152
rs777137810
111M>T
Hereditary spastic paraplegia (ClinVar)
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1845132849113K>RTOPMed
rs1845133262114V>GEnsembl
rs1845133638116S>RTOPMed
gnomAD
rs1428189069119G>EgnomAD
rs1845134322120N>DTOPMed
gnomAD
rs868780278123A>STOPMed
gnomAD
rs868780278123A>TTOPMed
gnomAD
rs750894809125A>VEnsembl
rs200936130126N>S1000Genomes
gnomAD
rs1845137117127I>VEnsembl
rs753596475128T>NExAC
TOPMed
gnomAD
rs150434062129I>VESP
ExAC
TOPMed
gnomAD
COSV99828919
rs372445359
130V>Mcosmic curated
ExAC
TOPMed
gnomAD
rs1345163148131E>ATOPMed
gnomAD
COSV55157810
rs1845139426
131E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
COSV55171785
rs374418193
133N>Kcosmic curated
ESP
ExAC
TOPMed
gnomAD
CM133118
COSV55155207
rs78513616
rs78513616,CM133118
134A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
cosmic curated
ESP
TOPMed
dbSNP
gnomAD
rs1589448464135T>AEnsembl
COSV99827983
rs76810404
136S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs1259295131137T>ATOPMed
gnomAD
COSV55152517
rs947907187
137T>Icosmic curated
TOPMed
gnomAD
rs779965848138S>FExAC
gnomAD
rs779965848138S>YExAC
gnomAD
rs746763346139T>AExAC
gnomAD
rs868515602139T>IEnsembl
rs371167537140T>IESP
TOPMed
gnomAD
rs371167537140T>SESP
TOPMed
gnomAD
COSV55175783
rs1157109442
141G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV55157135
rs555525050
141G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs1478691742142T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs1194265763142T>KgnomAD
rs115604365144H>Q1000Genomes
TOPMed
rs935253685144H>RTOPMed
rs1465600959149A>EgnomAD
COSV99828750
rs1822655447
150E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs958835742154T>ATOPMed
gnomAD
COSV99828994
rs769339572
156C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
gnomAD
rs769339572156C>SExAC
gnomAD
rs539540040157V>AgnomAD
rs1338840122157V>LgnomAD
rs1822663492159G>RTOPMed
gnomAD
rs1331104094162C>WgnomAD
rs1345145720164M>IgnomAD
rs1257176232164M>LgnomAD
COSV99829297
rs762642443
165V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs762642443165V>MExAC
gnomAD
rs1052316840167D>ETOPMed
gnomAD
rs149003552168L>VESP
ExAC
TOPMed
gnomAD
rs1283496484169S>PgnomAD
COSV107289799
rs868640249
170N>Hcosmic curated
Ensembl
rs1822675890170N>KgnomAD
rs765324170172S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs765324170172S>WExAC
TOPMed
gnomAD
rs1822683224177K>REnsembl
rs756105629180N>HExAC
gnomAD
rs1053672648180N>STOPMed
gnomAD
rs777521831183T>IExAC
gnomAD
rs777521831183T>SExAC
gnomAD
COSV55165835
rs1255610781
184G>Scosmic curated
TOPMed
gnomAD
COSV55160573
rs2129040224
186R>Ccosmic curated
Ensembl
COSV55159804
rs1482364979
186R>Hcosmic curated
gnomAD
rs2129040237187C>*Ensembl
rs2129040235187C>YEnsembl
rs770361611190Y>HExAC
gnomAD
rs1826633217191V>AEnsembl
COSV55149762
rs745499338
191V>Icosmic curated
ExAC
TOPMed
gnomAD
rs2129040261193A>DEnsembl
COSV104600314
rs772466472
193A>Tcosmic curated
ExAC
gnomAD
rs775956667195F>LExAC
gnomAD
rs2129040280196Y>*Ensembl
rs760901346196Y>NExAC
gnomAD
rs1168488500197S>GTOPMed
gnomAD
rs2129040289197S>NEnsembl
COSV55174615
rs764678705
198T>Mcosmic curated
ExAC
TOPMed
gnomAD
rs1467203084199S>FgnomAD
rs1051730009200T>ATOPMed
rs1313134472200T>ITOPMed
gnomAD
rs1339572843201P>ATOPMed
gnomAD
COSV55170332
rs1339572843
201P>Tcosmic curated
TOPMed
gnomAD
rs776939550202F>LExAC
TOPMed
gnomAD
rs762055402204S>TExAC
gnomAD
rs2129040340206P>LEnsembl
rs765398697207E>KExAC
TOPMed
gnomAD
rs765398697207E>QExAC
TOPMed
gnomAD
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