Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.T74fs

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.T74fs
c.220_221fs
Surrounding Variants
4 papers
NM_002495.4
p.T74delFs
c.221delC
1 paper
NM_002495.4
p.R75S
c.225A>C
1 paper
NM_002495.4
p.R75S
c.225A>T
1 paper
NM_002495.4
p.V77L
c.229G>C
1 paper
NM_002495.4
p.E69K
c.205G>A
1 paper
NM_002495.4
p.P68_I72delFs
c.204_214del11
1 paper
NM_002495.4
p.P68A
c.202C>G
1 paper
NM_002495.4
p.P68Fs
c.202_203delinsGFs
1 paper
NM_002495.4
p.F80Y
c.239T>A
3 papers
NM_002495.4
p.G66G
c.198A>C
1 paper
NM_002495.4
p.P82S
c.244C>T
1 paper
NM_002495.4
p.R84C
c.250C>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."