Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.T148A

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.T148A
c.442A>G
Surrounding Variants
1 paper
NM_002496.4
p.T148I
c.443C>T
2 papers
NM_002496.4
p.M147I
c.441G>A
2 papers
NM_002496.4
p.M147I
c.441G>C
2 papers
NM_002496.4
p.M147I
c.441G>T
1 paper
NM_002496.4
p.D146V
c.437A>T
1 paper
NM_002496.4
p.Y152F
c.455A>T
5 papers
NM_002496.4
p.C153R
c.457T>C
10 papers
NM_002496.4
p.G154S
c.460G>A
1 paper
NM_002496.4
p.F155I
c.463T>A
2 papers
NM_002496.4
p.F155L
c.463T>C
2 papers
NM_002496.4
p.F155L
c.465C>A
2 papers
NM_002496.4
p.F155L
c.465C>G
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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."