Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA12
Variant:p.R60*

NDUFA12

57 papers

RefSeq Summary

This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establis...

Pfam Domains

NDUFA12aa 36–139UCSCNADH ubiquinone oxidoreductase subunit NDUFA12

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A12

HGNC Alias Symbols

DAP13; B17.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_018838.5
p.R60*
c.178C>T
Surrounding Variants
1 paper
NM_018838.5
p.R58C
c.172C>T
1 paper
NM_018838.5
p.Y64H
c.190T>C
1 paper
NM_018838.5
p.G70G
c.210C>T
1 paper
NM_018838.5
p.M68_N72delFs
c.204_214del11
4 papers
NM_018838.5
p.W75*
c.224G>A
4 papers
NM_018838.5
p.W75*
c.225G>A
1 paper
NM_018838.5
p.W75delFs
c.225delC
1 paper
NM_018838.5
p.D78_G79del1
c.233_235delCAT
2 papers
NM_018838.5
p.V82E
c.245T>A
3 papers
NM_018838.5
p.E85*
c.253G>T
1 paper
NM_018838.5
p.F55V
c.163T>G
1 paper
NM_018838.5
p.Y44delFs
c.131_132delAT
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