Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.G89C

NDUFS8

140 papers

RefSeq Summary

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ej...

Pfam Domains

Fer4_7aa 110–164UCSC4Fe-4S dicluster domain

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit S8

HGNC Alias Symbols

TYKY; CI-23k

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002496.4
p.G89C
c.265G>T
Surrounding Variants
1 paper
NM_002496.4
p.K88insFs
c.263_264insC
1 paper
NM_002496.4
p.E87V
c.260A>T
9 papers
NM_002496.4
p.P85L
c.254C>T
11 papers
NM_002496.4
p.R94C
c.280C>T
1 paper
NM_002496.4
p.R96H
c.287G>A
29 papers
NM_002496.4
p.P79L
c.236C>T
1 paper
NM_002496.4
p.A100_L101delFs
c.300_301delGC
1 paper
NM_002496.4
p.R77fs
c.229_230fs
7 papers
NM_002496.4
p.R77W
c.229C>T
3 papers
NM_002496.4
p.R102C
c.304C>T
28 papers
NM_002496.4
p.R102H
c.305G>A
1 paper
NM_002496.4
p.L75delFs
c.225delG
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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."