Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.R104R

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
Selected Variant
2 papers
NM_002495.4
p.R104R
c.312A>G
Surrounding Variants
1 paper
NM_002495.4
p.E105K
c.313G>A
32 papers
NM_002495.4
p.R106*
c.316C>T
9 papers
NM_002495.4
p.W97*
c.291G>A
9 papers
NM_002495.4
p.W97*
c.290G>A
10 papers
NM_002495.4
p.W97delFs
c.291delG
5 papers
NM_002495.4
p.W114R
c.340T>A
5 papers
NM_002495.4
p.W114R
c.340T>C
1 paper
NM_002495.4
p.T117Splc
c.350+1G>T
3 papers
NM_002495.4
p.T117Splc
c.350+5G>A
1 paper
NM_002495.4
p.Q88*
c.262C>T
1 paper
NM_002495.4
p.R84C
c.250C>T
1 paper
NM_002495.4
p.P82S
c.244C>T
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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."