Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF1

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
1–12 of 57 variants
12 papers
NM_016013.4
p.T207P
c.619A>C
11 papers
NM_016013.4
p.R211C
c.631C>T
11 papers
NM_016013.4
p.K253R
c.758A>G
9 papers
NM_016013.4
p.G245R
c.733G>A
7 papers
NM_016013.4
p.G245R
c.733G>C
5 papers
NM_016013.4
p.D83N
c.247G>A
5 papers
NM_016013.4
p.H93R
c.278A>G
5 papers
NM_016013.4
p.A314G
c.941C>G
4 papers
NM_016013.4
p.R31L
c.92G>T
3 papers
NM_016013.4
p.M236I
c.708G>T
3 papers
NM_016013.4
p.M236I
c.708G>C
3 papers
NM_016013.4
p.M236I
c.708G>A
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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."