Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA12
Variant:p.E41fs

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.E41fs
c.121_122fs
Surrounding Variants
2 papers
NM_018838.5
p.E41insFs
c.121dupG
1 paper
NM_018838.5
p.E41D
c.123A>T
1 paper
NM_018838.5
p.E41D
c.123A>C
1 paper
NM_018838.5
p.Y44fs
c.130_131fs
1 paper
NM_018838.5
p.Y44delFs
c.131_132delAT
1 paper
NM_018838.5
p.D32G
c.95A>G
3 papers
NM_018838.5
p.R29K
c.86G>A
1 paper
NM_018838.5
p.F55V
c.163T>G
3 papers
NM_018838.5
p.R29K
c.86G>A
3 papers
NM_018838.5
p.R29fs
c.85_86fs
3 papers
NM_018838.5
p.F28insFs
c.83dupT
1 paper
NM_018838.5
p.F28fs
c.82_83fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."