Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4

NDUFS4

168 papers

RefSeq Summary

This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons fr...

Pfam Domains

NDUS4aa 76–170UCSCNADH dehydrogenase ubiquinone Fe-S protein 4

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit S4

HGNC Alias Symbols

AQDQ; CI-18

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
32 papers
NM_002495.4
p.R106*
c.316C>T
24 papers
NM_002495.4
p.K154delFs
c.462delA
22 papers
NM_002495.4
p.W15*
c.44G>A
13 papers
NM_002495.4
p.D119H
c.355G>C
13 papers
NM_002495.4
p.K154fs
c.460_461fs
10 papers
NM_002495.4
p.W97delFs
c.291delG
9 papers
NM_002495.4
p.R33Splc
c.99-1G>A
9 papers
NM_002495.4
p.W97*
c.290G>A
9 papers
NM_002495.4
p.W97*
c.291G>A
9 papers
NM_002495.4
p.K158fs
c.472_473fs
8 papers
NM_002495.4
p.W15*
c.45G>A
5 papers
NM_002495.4
p.W114R
c.340T>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."