Q8N183 · NDUF2_HUMAN

  • Protein
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
  • Gene
    NDUFAF2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

116920406080100120140160
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
CA359935449
RCV000590857
RCV003558449
rs1554076306
1M>L
Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
rs14301925102G>AgnomAD
rs8664588712G>CTOPMed
gnomAD
rs8664588712G>RTOPMed
gnomAD
rs8664588712G>STOPMed
gnomAD
CA359935468
RCV000590851
rs1554076309
3W>*
Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs17504141203W>*Ensembl
VAR_0814223-169WS>del
MC1DN10 (UniProt)
UniProt
COSV99410400
RCV000674445
rs772489808
5Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Cockayne syndrome type 1 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
rs7724898085Q>EVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs7779414975Q>HExAC
gnomAD
rs12943599605Q>PgnomAD
TCGA novel5Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
CA10624863
RCV000326140
RCV000383048
RCV000668467
rs886060726
6D>E
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency (ClinVar)
Cockayne syndrome type 1 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
COSV54015971
COSV54015971,COSV54017109
COSV54017109
6D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54015971
rs1750414710
6D>Ycosmic curated
TOPMed
rs7455883028F>LExAC
gnomAD
COSV54018593
rs769323668
9R>Ccosmic curated
ExAC
gnomAD
COSV99410774
rs775103568
10A>Tcosmic curated
ExAC
gnomAD
rs37434640611L>SESP
ExAC
TOPMed
gnomAD
rs175041529412W>*TOPMed
rs36844624213R>KESP
ExAC
gnomAD
rs36844624213R>TESP
ExAC
gnomAD
TCGA novel14S>C
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
RCV001969374
rs761787794
14S>LVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs77443838114S>PExAC
gnomAD
rs133749603715L>PTOPMed
gnomAD
rs175041586116S>*gnomAD
rs77287929117R>GExAC
TOPMed
gnomAD
rs14149269717R>KESP
TOPMed
rs76099941918E>DVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
TCGA novel20K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs15892120K>NBenign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs144095585420K>RTOPMed
rs75507883421E>AVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs75507883421E>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
TCGA novel21E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs143969727622H>YTOPMed
rs146777960523V>LTOPMed
gnomAD
COSV54019544
rs1467779605
23V>Mcosmic curated
TOPMed
gnomAD
rs124800430924G>DTOPMed
gnomAD
rs119909981224G>SgnomAD
rs175041740925T>AEnsembl
rs147413394825T>MTOPMed
gnomAD
rs175041769226D>EEnsembl
CA359935618
RCV000578640
rs1554076318
27Q>*Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
CA319845
RCV000195504
RCV002517239
rs753215899
27Q>L
Inborn genetic diseases (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs75321589927Q>PLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs175041823428F>CgnomAD
rs158005977928F>LTOPMed
rs77826322929G>RExAC
TOPMed
gnomAD
rs77826322929G>WExAC
TOPMed
gnomAD
rs175041861930N>STOPMed
rs143009482132Y>*gnomAD
rs211255818632Y>*Ensembl
rs75583697932Y>CVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs104018303332Y>DVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs104018303332Y>HVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs74888503033Y>*ExAC
gnomAD
CA3278067
RCV000294764
RCV000386723
RCV003278786
rs779872068
33Y>C
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Inborn genetic diseases (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs77987206833Y>FLikely benign (Ensembl)ExAC
TOPMed
gnomAD
COSV54016786
RCV001156249
RCV001156250
rs773988847
34Y>H
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA658655567
RCV000001662
rs1554076324
35I>missing
Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
rs74818821035I>LExAC
TOPMed
gnomAD
rs98463658836P>STOPMed
RCV000674171
rs1554076325
37Q>*
Cockayne syndrome type 1 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs14400669237Q>LESP
TOPMed
gnomAD
rs14400669237Q>RESP
TOPMed
gnomAD
CA3278074
RCV000485122
RCV000590864
RCV000674200
RCV000780529
RCV001335554
rs199754807
38Y>*
Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Cockayne syndrome type 1 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel38Y>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
VAR_08142338-169YK>del
MC1DN10; patient cells homozygous for the variant do not express detectable amounts of protein; complex I assembly is altered and activity is severely reduced in patient cells compared to control (UniProt)
UniProt
rs76616014739K>MExAC
gnomAD
TCGA novel39K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs37674731640N>KLikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77684124740N>SExAC
gnomAD
rs123490506740N>YEnsembl
rs175042056241W>*TOPMed
RCV002003530
rs1561523202
41W>CVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs175042048341W>REnsembl
COSV9968180143G>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV5694310743G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
RCV001264587
RCV003669220
rs1752321639
44Q>missing
Leigh syndrome (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
CA322323
RCV000197862
RCV001157922
RCV001157923
RCV002515408
rs775605330
44Q>P
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs77560533044Q>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs76317994845T>IExAC
gnomAD
rs122656060546I>STOPMed
RCV001157924
RCV001157925
rs1752321893
46I>V
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA115096
CM053986
COSV56942088
RCV000001661
RCV000624428
RCV000679870
RCV000779476
RCV000781647
RCV001582459
rs137852863
47R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Leigh syndrome (ClinVar)
Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Inborn genetic diseases (ClinVar)
Leigh syndrome (ls) (Ensembl)
Pathogenic (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA
NCI-TCGA Cosmic
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA324301
RCV000199750
rs762449995
47R>QVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
VAR_08142447-169RE>del
MC1DN10 (UniProt)
UniProt
rs175232216948E>GgnomAD
COSV99681451
rs1378667377
48E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
COSV9968145148E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99681673
rs1031796945
49K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
rs175232238151I>TEnsembl
rs76812071451I>VExAC
gnomAD
rs91556376352V>ITOPMed
COSV5694296153E>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
CA324418
RCV000199863
RCV002515409
rs750914742
56N>S
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs211173203657K>EEnsembl
rs55766055459E>*1000Genomes
ExAC
gnomAD
rs175232272059E>VEnsembl
rs175232277260V>AEnsembl
rs76678651761D>AExAC
TOPMed
gnomAD
COSV5694470361D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76678651761D>VExAC
TOPMed
gnomAD
RCV001784719
rs1561557254
62Y>missing
Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
rs77721163062Y>CExAC
gnomAD
rs75805350162Y>DExAC
gnomAD
rs175232328964A>TTOPMed
gnomAD
COSV5694234865G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV9968129565G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs126743422266D>ETOPMed
gnomAD
rs77988691966D>GExAC
gnomAD
CA3278128
RCV000298358
RCV000336991
RCV003243110
rs769579395
66D>H
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Inborn genetic diseases (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs76957939566D>NLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs175232364167I>SEnsembl
COSV5693610468P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs74954142869T>IExAC
gnomAD
rs142139059470E>GTOPMed
gnomAD
COSV5693734971W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76889219471W>RExAC
TOPMed
gnomAD
rs211173215272E>AEnsembl
rs175232393172E>KEnsembl
rs175267545373A>GEnsembl
rs77434306673A>TExAC
TOPMed
gnomAD
CA3278149
RCV000587093
RCV001557146
RCV002497240
rs772294726
74W>*
Leigh syndrome (ClinVar)
Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar)
Leigh syndrome (ls) (Ensembl)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV9968127474W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs175267558775I>TgnomAD
rs175267562076R>KEnsembl
rs135273847778T>ATOPMed
gnomAD
rs74758292978T>RExAC
gnomAD
rs128365622983P>ATOPMed
gnomAD
rs123976369283P>HTOPMed
gnomAD
rs123976369283P>LTOPMed
gnomAD
rs175267600784T>ATOPMed
rs175267600784T>PTOPMed
rs77690497385M>IExAC
gnomAD
rs77143396785M>VExAC
TOPMed
gnomAD
rs75996747186E>KExAC
TOPMed
gnomAD
rs132787055688I>LTOPMed
gnomAD
rs78173788888I>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs74629257690K>QExAC
TOPMed
gnomAD
RCV002007011
rs2111838756
91N>DVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs77020554891N>IExAC
TOPMed
gnomAD
RCV003404942
rs767565052
94H>missingVariant of uncertain significance (ClinVar)ClinVar
dbSNP
rs133863848194H>LTOPMed
gnomAD
COSV99681367
rs1209299036
96E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs52736621097E>*1000Genomes
ExAC
TOPMed
gnomAD
rs174126306697E>DEnsembl
rs1166273303100I>TTOPMed
rs771692093101K>EExAC
TOPMed
gnomAD
COSV56943289101K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1379306871103Q>*gnomAD
rs772803188103Q>HExAC
gnomAD
rs530506737104D>HExAC
gnomAD
TCGA novel104D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs530506737104D>YExAC
gnomAD
TCGA novel105F>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1741263620107E>GTOPMed
rs765744603107E>QExAC
gnomAD
rs1361332952110K>NTOPMed
gnomAD
rs1741263769111L>REnsembl
rs1445036818113S>GgnomAD
rs377746451113S>IESP
ExAC
TOPMed
gnomAD
rs377746451113S>TESP
ExAC
TOPMed
gnomAD
rs1377961254114K>ETOPMed
gnomAD
rs1741264026115E>*gnomAD
RCV001955453
rs2111838875
115E>DVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1741264060116T>ITOPMed
rs1741264185122P>AEnsembl
rs560683253123P>L1000Genomes
rs765188308123P>TExAC
gnomAD
rs752505537124P>AExAC
gnomAD
rs752505537124P>SExAC
gnomAD
rs1196538331125V>FgnomAD
COSV99681681126Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs778159499127T>IExAC
TOPMed
gnomAD
CA322505
RCV000198027
rs760647945
129I>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
rs1244524991129I>NTOPMed
gnomAD
rs1477399802131G>DgnomAD
rs1741264927133A>VEnsembl
rs140013526134S>CESP
ExAC
TOPMed
gnomAD
RCV001895876
rs992697884
134S>PVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs201187582135A>T1000Genomes
ExAC
gnomAD
COSV56938261137Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1741265217137Y>HTOPMed
CA3278195
RCV000302238
RCV000400065
rs770172045
138F>L
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Likely benign (Ensembl)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs373327649138F>VESP
ExAC
gnomAD
rs2062967010140K>REnsembl
rs1467428339141E>KTOPMed
gnomAD
CA3278196
RCV000266885
RCV000359308
RCV001861260
rs749677218
141E>V
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1326916757142E>DTOPMed
gnomAD
rs1437284986143P>LgnomAD
rs967126073143P>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
TCGA novel144S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1741265705144S>PEnsembl
rs1276627263145V>MTOPMed
gnomAD
rs1741265823147P>AEnsembl
rs772860405148S>GExAC
TOPMed
gnomAD
rs936287273148S>ITOPMed
gnomAD
rs936287273148S>NTOPMed
gnomAD
rs1257232668149S>CgnomAD
CA3278200
RCV000585479
RCV000602804
RCV001152463
RCV001153733
rs9885480
151G>S
Leigh syndrome (ClinVar)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs770536267152K>RExAC
TOPMed
gnomAD
rs1477153837156P>QgnomAD
CA658796528
RCV000598761
rs1231742714
156P>missingVariant of uncertain significance (ClinVar)ClinGen
ClinVar
dbSNP
COSV99681848157G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel159W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1741266551160M>VgnomAD
rs765241458162R>*ExAC
TOPMed
gnomAD
rs765241458162R>GExAC
TOPMed
gnomAD
rs374701660162R>PLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
CA323638
RCV000199100
rs374701660
162R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl, ClinVar, NCI-TCGA)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3278205
RCV000478282
RCV000779477
RCV004023109
rs753595274
164G>missing
NDUFAF2-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Likely benign (ClinVar)ClinGen
ClinVar
dbSNP
rs763914930164G>SExAC
gnomAD
rs1390304521167H>RgnomAD
rs552253221168N>S1000Genomes
ExAC
TOPMed
gnomAD
rs552253221168N>T1000Genomes
ExAC
TOPMed
gnomAD
rs371236767168N>YESP
ExAC
TOPMed
gnomAD
rs148637794169Q>EESP
gnomAD
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