Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA12
Variant:p.S92_M93del1

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.S92_M93del1
c.276_278delATA
Surrounding Variants
1 paper
NM_018838.5
p.W86Splc
c.258-1G>C
2 papers
NM_018838.5
p.R106H
c.317G>A
1 paper
NM_018838.5
p.W110R
c.328T>C
3 papers
NM_018838.5
p.K132fs
c.394_395fs
1 paper
NM_018838.5
p.K132R
c.395A>G
3 papers
NM_018838.5
p.K132delFs
c.395delT
1 paper
NM_018838.5
p.K133_I134del1
c.398_400delTCT
1 paper
NM_018838.5
p.I138T
c.413T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."