Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.W40*

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
1 paper
NM_002495.4
p.W40*
c.120G>A
Surrounding Variants
2 papers
NM_002495.4
p.W40*
c.119G>A
1 paper
NM_002495.4
p.A43E
c.128C>A
2 papers
NM_002495.4
p.S38T
c.112T>A
1 paper
NM_002495.4
p.L35_R36insFs
c.105_106insA
2 papers
NM_002495.4
p.S34P
c.100T>C
2 papers
NM_002495.4
p.S34fs
c.100_101fs
9 papers
NM_002495.4
p.R33Splc
c.99-1G>A
1 paper
NM_002495.4
p.E57delFs
c.169delG
1 paper
NM_002495.4
p.E57fs
c.169_170fs
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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."