Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA12
Variant:p.L20_R21Fs

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
1 paper
NM_018838.5
p.L20_R21Fs
c.60_61delinsTFs
Surrounding Variants
1 paper
NM_018838.5
p.G19D
c.56G>A
1 paper
NM_018838.5
p.Y23*
c.69T>G
1 paper
NM_018838.5
p.R25W
c.73C>T
3 papers
NM_018838.5
p.F28fs
c.82_83fs
3 papers
NM_018838.5
p.F28insFs
c.83dupT
1 paper
NM_018838.5
p.F28fs
c.82_83fs
3 papers
NM_018838.5
p.F28delFs
c.83delA
3 papers
NM_018838.5
p.R29fs
c.85_86fs
3 papers
NM_018838.5
p.R29K
c.86G>A
1 paper
NM_018838.5
p.L3F
c.9A>T
1 paper
NM_018838.5
p.L3F
c.9A>C
1 paper
NM_018838.5
p.L3*
c.8T>G
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