Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF1
Variant:p.A2A

NDUFAF1

85 papers

RefSeq Summary

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mito...

Pfam Domains

CIA30aa 125–298UCSCComplex I intermediate-associated protein 30 (CIA30)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 1

HGNC Alias Symbols

CIA30; CGI-65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016013.4
p.A2A
c.6T>G
Surrounding Variants
1 paper
NM_016013.4
p.A2V
c.5C>T
1 paper
NM_016013.4
p.M1R
c.2T>G
2 papers
NM_016013.4
p.M1T
c.2T>C
1 paper
NM_016013.4
p.M1V
c.1A>G
2 papers
NM_016013.4
p.R9H
c.26G>A
1 paper
NM_016013.4
p.G10C
c.28G>T
1 paper
NM_016013.4
p.F17Y
c.50T>A
1 paper
NM_016013.4
p.T21A
c.61A>G
1 paper
NM_016013.4
p.S22P
c.64T>C
4 papers
NM_016013.4
p.R31L
c.92G>T
1 paper
NM_016013.4
p.S45_P46Fs
c.134_136delinsCCFs
1 paper
NM_016013.4
p.T55I
c.164C>T
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