NDUFAF2

NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2

Annotation transcript: NM_174889.5

200 unique variant annotations were identified in 225 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
5-60241050-G-A c.-33G>A - 5-UTRSNV 1/4 - 3
5-60241083-A-C c.1A>C p.M1? Missense 1/4 - 3
5-60241083-A-T c.1A>T p.M1? Missense 1/4 - 3
5-60241090-G-A c.8G>A p.W3* Nonsense 1/4 - 1
5-60241091-G-A c.9G>A p.W3* Nonsense 1/4 - 2
5-60241095-C-T c.13C>T p.Q5* Nonsense 1/4 - 1
5-60241098-G-A c.16G>A p.D6N Missense 1/4 - 4
5-60241104-T-G c.22T>G p.F8V Missense 1/4 - 1
5-60241110-GC-TG c.28_29delinsTG p.A10C Missense 1/4 - 1
5-60241120-G-A c.38G>A p.R13K Missense 1/4 - 3
5-60241123-C-T c.41C>T p.S14L Missense 1/4 - 2
5-60241123-TC-T c.41del p.S14Cfs*6 Frameshift 1/4 - 1
5-60241130-A-T c.48A>T p.S16= Synonymous 1/4 - 2
5-60241142-G-A c.60G>A p.K20= Synonymous 1/4 - 25
5-60241144-A-G c.62A>G p.E21G Missense 1/4 - 1
5-60241146-C-T c.64C>T p.H22Y Missense 1/4 - 1
5-60241153-G-T c.71G>T p.G24V Missense 1/4 - 1
5-60241162-A-T c.80A>T p.Q27L Missense 1/4 - 1
5-60241171-A-G c.89A>G p.N30S Missense 1/4 - 1
5-60241177-A-G c.95A>G p.Y32C Missense 1/4 - 1
5-60241178-C-T c.96C>T p.Y32= Synonymous 1/4 - 1
5-60241185-CA-C c.103del p.I35Sfs*18 Frameshift 1/4 - 3
5-60241186-ATCCC-A c.104_107del p.I35Sfs*17 Frameshift 1/4 - 3
5-60241188-C-G c.106C>G p.P36A Missense 1/4 - 1
5-60241192-A-T c.110A>T p.Q37L Missense 1/4 - 1
5-60241193-G-A c.111G>A p.Q37= Synonymous 1/4 - 1
5-60241194-T-A c.112T>A p.Y38N Missense 1/4 - 1
5-60241196-C-A c.114C>A p.Y38* Nonsense 1/4 - 3
5-60241196-C-G c.114C>G p.Y38* Nonsense 1/4 - 5
5-60241198-A-G c.116A>G p.K39R Missense 1/4 - 1
5-60241196-C-CAAGTATTATTATATCCCTCAATAT c.117_118insTATTATTATATCCCTCAATATAAG p.Y32_K39dup InFrameInsertion 1/4 - 1
5-60241212-G-C c.127+3G>C - IntronicSNV - 1/3 1
5-60241219-C-T c.127+10C>T - IntronicSNV - 1/3 1
5-60241222-C-T c.127+13C>T - IntronicSNV - 1/3 1
5-60241225-G-C c.127+16G>C - IntronicSNV - 1/3 1
5-60241228-C-T c.127+19C>T - IntronicSNV - 1/3 1
5-60241241-G-C c.127+32G>C - IntronicSNV - 1/3 2
5-60241254-A-T c.127+45A>T - IntronicSNV - 1/3 1
5-60241268-G-A c.127+59G>A - IntronicSNV - 1/3 3
5-60241268-G-T c.127+59G>T - IntronicSNV - 1/3 3
5-60245145-A-G c.127+3936A>G - IntronicSNV - 1/3 3
5-60247815-G-A c.127+6606G>A - IntronicSNV - 1/3 1
5-60248015-GT-G c.127+6812del - IntronicDeletion - 1/3 1
5-60248616-C-T c.127+7407C>T - IntronicSNV - 1/3 1
5-60249099-GT-G c.127+7898del - IntronicDeletion - 1/3 1
5-60252909-G-A c.127+11700G>A - IntronicSNV - 1/3 1
5-60265392-T-G c.127+24183T>G - IntronicSNV - 1/3 1
5-60265391-GT-G c.127+24191del - IntronicDeletion - 1/3 1
5-60268066-C-A c.127+26857C>A - IntronicSNV - 1/3 1
5-60268788-AT-A c.127+27587del - IntronicDeletion - 1/3 1
5-60273923-C-A c.127+32714C>A - IntronicSNV - 1/3 9
5-60273923-C-T c.127+32714C>T - IntronicSNV - 1/3 9
5-60278940-C-T c.127+37731C>T - IntronicSNV - 1/3 1
5-60279107-CAT-C c.127+37898_127+37899del - IntronicDeletion - 1/3 1
5-60279117-G-C c.127+37908G>C - IntronicSNV - 1/3 1
5-60283387-C-A c.127+42178C>A - IntronicSNV - 1/3 1
5-60297424-G-A c.127+56215G>A - IntronicSNV - 1/3 1
5-60297424-G-T c.127+56215G>T - IntronicSNV - 1/3 1
5-60298769-C-G c.127+57560C>G - IntronicSNV - 1/3 1
5-60298769-C-T c.127+57560C>T - IntronicSNV - 1/3 1
5-60315823-T-C c.128-53129T>C - IntronicSNV - 1/3 1
5-60323753-T-A c.128-45199T>A - IntronicSNV - 1/3 1
5-60323753-T-G c.128-45199T>G - IntronicSNV - 1/3 1
5-60328265-C-T c.128-40687C>T - IntronicSNV - 1/3 1
5-60340866-A-G c.128-28086A>G - IntronicSNV - 1/3 1
5-60345424-T-A c.128-23528T>A - IntronicSNV - 1/3 1
5-60345424-T-G c.128-23528T>G - IntronicSNV - 1/3 1
5-60352742-A-T c.128-16210A>T - IntronicSNV - 1/3 1
5-60368952-G-A c.128G>A p.G43E Missense 2/4 - 4
5-60368955-A-C c.131A>C p.Q44P Missense 2/4 - 2
5-60368957-A-T c.133A>T p.T45S Missense 2/4 - 1
5-60368958-C-G c.134C>G p.T45S Missense 2/4 - 2
5-60368963-C-T c.139C>T p.R47* Nonsense 2/4 - 2
5-60368966-G-A c.142G>A p.E48K Missense 2/4 - 1
5-60368967-A-G c.143A>G p.E48G Missense 2/4 - 1
5-60368968-G-T c.144G>T p.E48D Missense 2/4 - 1
5-60368969-A-G c.145A>G p.K49E Missense 2/4 - 2
5-60368976-T-C c.152T>C p.I51T Missense 2/4 - 1
5-60368982-A-G c.158A>G p.E53G Missense 2/4 - 3
5-60368991-A-G c.167A>G p.N56S Missense 2/4 - 1
5-60369005-G-A c.181G>A p.D61N Missense 2/4 - 6
5-60369007-C-A c.183C>A p.D61E Missense 2/4 - 1
5-60369007-C-G c.183C>G p.D61E Missense 2/4 - 1
5-60369007-CTA-C c.185_186del p.Y62* Frameshift 2/4 - 1
5-60369008-T-TA c.185dup p.Y62* Nonsense 2/4 - 1
5-60369010-T-A c.186T>A p.Y62* Nonsense 2/4 - 2
5-60369010-T-G c.186T>G p.Y62* Nonsense 2/4 - 2
5-60369011-G-A c.187G>A p.E63K Missense 2/4 - 1
5-60369014-G-A c.190G>A p.A64T Missense 2/4 - 1
5-60369017-G-A c.193G>A p.G65R Missense 2/4 - 4
5-60369018-G-T c.194G>T p.G65V Missense 2/4 - 2
5-60369019-G-A c.195G>A p.G65= Synonymous 2/4 - 1
5-60369019-G-C c.195G>C p.G65= Synonymous 2/4 - 1
5-60369019-G-T c.195G>T p.G65= Synonymous 2/4 - 1
5-60369021-A-G c.197A>G p.D66G Missense 2/4 - 1
5-60369023-A-G c.199A>G p.I67V Missense 2/4 - 1
5-60369024-ATTC-A c.200_202del p.I67_P68delinsT MultiAAMissense 2/4 - 1
5-60369025-T-A c.201T>A p.I67= Synonymous 2/4 - 1
5-60369025-T-C c.201T>C p.I67= Synonymous 2/4 - 1
5-60369027-C-G c.203C>G p.P68R Missense 2/4 - 1
5-60369027-C-T c.203C>T p.P68L Missense 2/4 - 5
5-60369030-C-A c.206C>A p.T69K Missense 2/4 - 1
5-60369036-G-A c.212G>A p.W71* Nonsense 2/4 - 2
5-60369036-G-C c.212G>C p.W71S Missense 2/4 - 1
5-60369037-G-A c.213G>A p.W71* Nonsense 2/4 - 7
5-60369039-A-G c.215A>G p.E72G Missense 2/4 - 1
5-60369042-G-T c.217+1G>T - IntronicSNV - 2/3 2
5-60369083-A-G c.217+42A>G - IntronicSNV - 2/3 6
5-60369155-TG-T c.217+114del - IntronicDeletion - 2/3 1
5-60374912-A-G c.217+5871A>G - IntronicSNV - 2/3 1
5-60388313-A-T c.218-6506A>T - IntronicSNV - 2/3 2
5-60394706-T-A c.218-113T>A - IntronicSNV - 2/3 1
5-60394822-G-A c.221G>A p.W74* Nonsense 3/4 - 10
5-60394822-G-T c.221G>T p.W74L Missense 3/4 - 1
5-60394823-G-A c.222G>A p.W74* Nonsense 3/4 - 5
5-60394823-G-T c.222G>T p.W74C Missense 3/4 - 1
5-60394828-G-C c.227G>C p.R76T Missense 3/4 - 1
5-60394827-A-C c.226A>C p.R76= Synonymous 3/4 - 1
5-60394829-A-G c.228A>G p.R76= Synonymous 3/4 - 1
5-60394830-AGA-TGT c.229_231delinsTGT p.R77C Missense 3/4 - 1
5-60394831-G-A c.230G>A p.R77K Missense 3/4 - 1
5-60394831-G-C c.230G>C p.R77T Missense 3/4 - 2
5-60394840-A-G c.239A>G p.K80R Missense 3/4 - 1
5-60394845-C-CAAG c.244_245insAAG p.P82delinsQA MultiAAMissense 3/4 - 1
5-60394969-C-T c.258+110C>T - IntronicSNV - 3/3 1
5-60395148-G-A c.258+289G>A - IntronicSNV - 3/3 1
5-60395656-C-G c.258+797C>G - IntronicSNV - 3/3 1
5-60407454-CT-C c.258+12604del - IntronicDeletion - 3/3 1
5-60413499-C-CTT c.258+18647_258+18648dup - IntronicInsertion - 3/3 1
5-60413499-C-CT c.258+18648dup - IntronicInsertion - 3/3 1
5-60415223-AT-A c.258+20372del - IntronicDeletion - 3/3 1
5-60416308-T-G c.258+21449T>G - IntronicSNV - 3/3 1
5-60427044-G-A c.259-21487G>A - IntronicSNV - 3/3 1
5-60427044-G-T c.259-21487G>T - IntronicSNV - 3/3 1
5-60429096-A-G c.259-19435A>G - IntronicSNV - 3/3 1
5-60429096-A-T c.259-19435A>T - IntronicSNV - 3/3 1
5-60441680-A-G c.259-6851A>G - IntronicSNV - 3/3 1
5-60448276-A-G c.259-255A>G - IntronicSNV - 3/3 1
5-60448276-A-T c.259-255A>T - IntronicSNV - 3/3 1
5-60448534-A-G c.262A>G p.I88V Missense 4/4 - 1
5-60448537-C-T c.265C>T p.L89= Synonymous 4/4 - 1
5-60448539-A-C c.267A>C p.L89= Synonymous 4/4 - 1
5-60448539-A-G c.267A>G p.L89= Synonymous 4/4 - 1
5-60448539-A-T c.267A>T p.L89= Synonymous 4/4 - 1
5-60448551-A-G c.279A>G p.K93= Synonymous 4/4 - 1
5-60448554-C-A c.282C>A p.H94Q Missense 4/4 - 1
5-60448554-C-G c.282C>G p.H94Q Missense 4/4 - 1
5-60448558-G-A c.286G>A p.E96K Missense 4/4 - 3
5-60448561-AG-A c.289del p.E97Kfs*4 Frameshift 4/4 - 1
5-60448562-A-G c.290A>G p.E97G Missense 4/4 - 1
5-60448571-T-C c.299T>C p.I100T Missense 4/4 - 1
5-60448573-A-G c.301A>G p.K101E Missense 4/4 - 1
5-60448575-A-C c.303A>C p.K101N Missense 4/4 - 1
5-60448575-A-T c.303A>T p.K101N Missense 4/4 - 1
5-60448576-AG-TT c.304_305delinsTT p.S102F Missense 4/4 - 2
5-60448614-A-G c.342A>G p.K114= Synonymous 4/4 - 1
5-60448619-C-A c.347C>A p.T116N Missense 4/4 - 1
5-60448636-C-T c.364C>T p.P122S Missense 4/4 - 1
5-60448648-C-G c.376C>G p.Q126E Missense 4/4 - 1
5-60448663-G-A c.391G>A p.G131S Missense 4/4 - 2
5-60448665-C-A c.393C>A p.G131= Synonymous 4/4 - 1
5-60448665-C-G c.393C>G p.G131= Synonymous 4/4 - 1
5-60448665-C-T c.393C>T p.G131= Synonymous 4/4 - 2
5-60448669-G-A c.397G>A p.A133T Missense 4/4 - 1
5-60448674-T-A c.402T>A p.S134= Synonymous 4/4 - 1
5-60448674-T-C c.402T>C p.S134= Synonymous 4/4 - 1
5-60448674-T-G c.402T>G p.S134= Synonymous 4/4 - 1
5-60448678-C-T c.406C>T p.P136S Missense 4/4 - 1
5-60448682-A-G c.410A>G p.Y137C Missense 4/4 - 2
5-60448684-T-G c.412T>G p.F138V Missense 4/4 - 1
5-60448686-T-A c.414T>A p.F138L Missense 4/4 - 1
5-60448686-T-C c.414T>C p.F138= Synonymous 4/4 - 1
5-60448693-G-A c.421G>A p.E141K Missense 4/4 - 1
5-60448699-C-T c.427C>T p.P143S Missense 4/4 - 2
5-60448709-C-T c.437C>T p.A146V Missense 4/4 - 1
5-60448710-T-C c.438T>C p.A146= Synonymous 4/4 - 2
5-60448715-G-A c.443G>A p.S148N Missense 4/4 - 1
5-60448723-G-A c.451G>A p.G151S Missense 4/4 - 8
5-60448726-A-G c.454A>G p.K152E Missense 4/4 - 1
5-60448726-A-T c.454A>T p.K152* Nonsense 4/4 - 1
5-60448729-A-G c.457A>G p.T153A Missense 4/4 - 1
5-60448731-C-T c.459C>T p.T153= Synonymous 4/4 - 1
5-60448732-T-C c.460T>C p.F154L Missense 4/4 - 1
5-60448734-T-A c.462T>A p.F154L Missense 4/4 - 1
5-60448734-T-G c.462T>G p.F154L Missense 4/4 - 1
5-60448734-T-C c.462T>C p.F154= Synonymous 4/4 - 4
5-60448735-C-T c.463C>T p.Q155* Nonsense 4/4 - 3
5-60448737-AGCC-A c.465_467del p.P156del InFrameDeletion 4/4 - 1
5-60448737-G-A c.465G>A p.Q155= Synonymous 4/4 - 1
5-60448740-A-C c.468A>C p.P156= Synonymous 4/4 - 1
5-60448740-A-G c.468A>G p.P156= Synonymous 4/4 - 1
5-60448740-A-T c.468A>T p.P156= Synonymous 4/4 - 1
5-60448741-G-T c.469G>T p.G157* Nonsense 4/4 - 1
5-60448742-G-A c.470G>A p.G157E Missense 4/4 - 3
5-60448757-G-A c.485G>A p.R162Q Missense 4/4 - 5
5-60448759-G-T c.487G>T p.D163Y Missense 4/4 - 1
5-60448761-TG-T c.491del p.G164Afs*25 Frameshift 4/4 - 1
5-60448771-C-A c.499C>A p.H167N Missense 4/4 - 1
5-60448775-A-C c.503A>C p.N168T Missense 4/4 - 1
5-60448775-A-G c.503A>G p.N168S Missense 4/4 - 1