C9JS54 · C9JS54_HUMAN

  • Protein
    Sad1 and UNC84 domain containing 1
  • Gene
    SUN1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

1113102030405060708090100110
MDFSRLHMYSPPQCVPENTGYTYALSSSYSSDALDFETEHKLDPVFDSPRMSRRSLRLATTACTLGDGEAVGADSGTSSAVSLKNRAARTTKQRRSTNKSAFSINHVSRQVTS
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
RCV001318108
rs199693265
2D>A
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs15625427213F>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs15625427213F>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs17989043114S>AgnomAD
rs3709470115R>PVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3709470115R>QVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000689087
rs149483651
5R>W
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV108166753
RCV000694307
rs777969470
6L>I
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs13284391997H>YVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs3739258188M>KLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
CA4111356
RCV000526025
RCV004023863
rs373925818
8M>T
Emery-Dreifuss muscular dystrophy (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs13037591608M>VgnomAD
COSV100568750
rs1222993651
9Y>Hcosmic curated
gnomAD
rs91877692510S>GTOPMed
gnomAD
COSV61779108
RCV000792139
rs200505697
10S>N
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs37246331110S>REnsembl
rs179892524911P>SEnsembl
rs123208174612P>STOPMed
gnomAD
COSV100568772
rs1232081746
12P>Tcosmic curated
TOPMed
gnomAD
rs126634801914C>RTOPMed
gnomAD
COSV61778177
rs377456170
16P>Lcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs142520022817E>KgnomAD
rs20203213618N>H1000Genomes
ExAC
gnomAD
rs179894123818N>TTOPMed
COSV61778306
rs1169026395
19T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs135430534120G>VTOPMed
gnomAD
rs145873659822T>MgnomAD
rs137332491623Y>CTOPMed
rs77301137423Y>HExAC
TOPMed
gnomAD
rs127890205624A>VTOPMed
gnomAD
rs103971345725L>PTOPMed
gnomAD
rs133469093127S>ATOPMed
gnomAD
rs180610808128S>TTOPMed
rs75321995729Y>*ExAC
gnomAD
rs76552226029Y>CExAC
rs212827023630S>FEnsembl
rs99510967332D>GTOPMed
gnomAD
rs124061368132D>NgnomAD
rs134813350933A>VgnomAD
rs180611699335D>HTOPMed
gnomAD
rs180611839537E>QgnomAD
rs76340528738T>KExAC
TOPMed
gnomAD
rs76340528738T>MExAC
TOPMed
gnomAD
rs180612730240H>QVariant of uncertain significance (Ensembl)gnomAD
rs180612522740H>YEnsembl
rs158444846943D>AEnsembl
rs94067863043D>ELikely benign (Ensembl)gnomAD
rs100797014144P>ATOPMed
gnomAD
rs100797014144P>TTOPMed
gnomAD
rs123500355045V>IgnomAD
rs115826832647D>GgnomAD
rs78146504547D>HExAC
gnomAD
rs156258493949P>LTOPMed
gnomAD
COSV100568665
rs775225289
50R>Lcosmic curated
ExAC
TOPMed
gnomAD
COSV100568665
COSV61777720
rs775225289
50R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
RCV001213270
rs1019819580
50R>W
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs143288097351M>ITOPMed
gnomAD
rs117410481752S>PTOPMed
gnomAD
rs75483319153R>CExAC
TOPMed
gnomAD
COSV61777538
rs1404378845
53R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
rs77880132054R>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs77880132054R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV000707439
rs772100423
54R>H
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
rs77880132054R>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV000802057
RCV004028089
rs777193403
55S>G
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs180616389555S>NTOPMed
COSV104652885
rs746512215
57R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs77055414357R>HVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs136902928359A>VgnomAD
RCV001051584
RCV004031607
rs112200342
60T>M
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs76349127461T>AExAC
gnomAD
rs19954062362A>STOPMed
gnomAD
rs19954062362A>TTOPMed
gnomAD
rs180618328062A>VVariant of uncertain significance (Ensembl)TOPMed
rs143650054464T>AgnomAD
rs118127418964T>NTOPMed
gnomAD
rs143650054464T>PgnomAD
rs77435321565L>MLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs77435321565L>VLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs148142853766G>EgnomAD
rs100153334666G>RTOPMed
rs37181769067D>GVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs76195006967D>NExAC
gnomAD
RCV002000277
rs371817690
67D>V
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001520200
rs188935423
68G>D
Emery-Dreifuss muscular dystrophy (ClinVar)
Benign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs139398489169E>DgnomAD
rs116965061069E>KgnomAD
rs180620922672G>VEnsembl
rs75636469773A>GExAC
gnomAD
rs140276421574D>ETOPMed
gnomAD
CA4111414
RCV000557468
rs374767640
74D>N
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs75846417975S>TExAC
gnomAD
RCV002064836
rs149038179
76G>A
Emery-Dreifuss muscular dystrophy (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA4111417
RCV000537279
RCV003915524
rs114826023
76G>C
SUN1-related disorder (ClinVar)
Emery-Dreifuss muscular dystrophy (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001944427
rs114826023
76G>S
Emery-Dreifuss muscular dystrophy (ClinVar)
Benign (Ensembl)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs14903817976G>VLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
RCV001360222
RCV004036756
rs780522800
78S>N
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA4111420
COSV100568902
RCV000549912
RCV003431081
rs199999269
79S>G
Emery-Dreifuss muscular dystrophy (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs122059689280A>DTOPMed
gnomAD
rs77588244880A>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV61777619
rs775882448
80A>SVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV61778351
RCV001297378
rs775882448
80A>T
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs158445207981V>GEnsembl
RCV001062171
rs536171212
81V>I
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs53617121281V>LVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs95852359082S>CTOPMed
gnomAD
rs137129489883L>PgnomAD
rs180625758684K>RTOPMed
gnomAD
rs37721222285N>IVariant of uncertain significance (Ensembl)ESP
gnomAD
rs140758610086R>GTOPMed
gnomAD
rs37566887286R>LBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV61777596
RCV000873720
RCV003938332
rs375668872
86R>P
SUN1-related disorder (ClinVar)
Emery-Dreifuss muscular dystrophy (ClinVar)
Benign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001942422
rs375668872
86R>Q
Emery-Dreifuss muscular dystrophy (ClinVar)
Benign (Ensembl)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001359325
rs371152290
87A>V
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs133646137889R>SgnomAD
rs135023266490T>RTOPMed
gnomAD
rs212829645291T>AEnsembl
rs139335961092K>TTOPMed
gnomAD
CA4111461
RCV000538628
RCV003935428
rs78842948
93Q>P
SUN1-related disorder (ClinVar)
Emery-Dreifuss muscular dystrophy (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs133518596394R>CgnomAD
RCV000796708
rs112598200
94R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs126488228195R>GgnomAD
rs181046984696S>NgnomAD
rs53602665497T>AVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
RCV001894057
RCV004039632
rs536026654
97T>S
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV61777525
RCV001362911
rs1203009448
99K>R
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs120300944899K>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV61779253
rs754552795
100S>Acosmic curated
ExAC
gnomAD
rs769303158101A>TEnsembl
rs1175062213101A>VgnomAD
rs771856676103S>NTOPMed
rs1810486661103S>RLikely benign (Ensembl)TOPMed
rs779380234104I>TExAC
TOPMed
gnomAD
rs999120053104I>VTOPMed
gnomAD
rs1382342252105N>SEnsembl
rs1382342252105N>TEnsembl
rs772702463107V>AExAC
gnomAD
RCV001899765
rs376335038
107V>M
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1810500093109R>GTOPMed
rs778427452109R>KVariant of uncertain significance (Ensembl)ExAC
gnomAD
RCV000791891
rs778427452
109R>T
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs747459970111V>IExAC
TOPMed
gnomAD
CA4111472
RCV000636865
RCV003992356
rs183872262
112T>M
Emery-Dreifuss muscular dystrophy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs771160146112T>PExAC
gnomAD
rs1584546641113S>YEnsembl
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