Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.P68A

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.P68A
c.202C>G
Surrounding Variants
1 paper
NM_002495.4
p.P68Fs
c.202_203delinsGFs
1 paper
NM_002495.4
p.P68_I72delFs
c.204_214del11
1 paper
NM_002495.4
p.E69K
c.205G>A
3 papers
NM_002495.4
p.G66G
c.198A>C
4 papers
NM_002495.4
p.T74delFs
c.221delC
2 papers
NM_002495.4
p.T74fs
c.220_221fs
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.L59_D60Splc
c.178-2A>G
1 paper
NM_002495.4
p.L59_D60Splc
c.178-2A>T
1 paper
NM_002495.4
p.V77L
c.229G>C
1 paper
NM_002495.4
p.L59_D60Splc
c.178-4G>C
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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."