Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF4

NDUFAF4

46 papers

RefSeq Summary

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the transloca...

Pfam Domains

UPF0240aa 1–168UCSCUncharacterised protein family (UPF0240)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 4

HGNC Previous Symbol

C6orf66

Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
12 papers
NM_014165.4
p.L65P
c.194T>C
4 papers
NM_014165.4
p.A3P
c.7G>C
3 papers
NM_014165.4
p.G8D
c.23G>A
2 papers
NM_014165.4
p.M1T
c.2T>C
1 paper
NM_014165.4
p.M1V
c.1A>G
1 paper
NM_014165.4
p.A3insFs
c.8_9insA
1 paper
NM_014165.4
p.R7S
c.19C>A
1 paper
NM_014165.4
p.L14I
c.40C>A
1 paper
NM_014165.4
p.G8_N13del0
c.22_39del18
1 paper
NM_014165.4
p.N13_E15delFs
c.39_43del5
1 paper
NM_014165.4
p.M25T
c.74T>C
1 paper
NM_014165.4
p.S28C
c.83C>G
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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."