Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8

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
1–12 of 100 variants
29 papers
NM_002496.4
p.P79L
c.236C>T
28 papers
NM_002496.4
p.R102H
c.305G>A
11 papers
NM_002496.4
p.R94C
c.280C>T
10 papers
NM_002496.4
p.G154S
c.460G>A
9 papers
NM_002496.4
p.P85L
c.254C>T
8 papers
NM_002496.4
p.R138H
c.413G>A
8 papers
NM_002496.4
p.A159D
c.476C>A
7 papers
NM_002496.4
p.R77W
c.229C>T
6 papers
NM_002496.4
p.E63Q
c.187G>C
5 papers
NM_002496.4
p.R2C
c.4C>T
5 papers
NM_002496.4
p.R54W
c.160C>T
5 papers
NM_002496.4
p.C153R
c.457T>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."