Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.M41L

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.M41L
c.121A>T
Surrounding Variants
1 paper
NM_002496.4
p.M41L
c.121A>C
1 paper
NM_002496.4
p.Q42*
c.124C>T
1 paper
NM_002496.4
p.P44delFs
c.130_131delCC
1 paper
NM_002496.4
p.Y38N
c.112T>A
1 paper
NM_002496.4
p.P44P
c.132C>T
1 paper
NM_002496.4
p.S50T
c.148T>A
1 paper
NM_002496.4
p.A55insFs
c.163dupG
5 papers
NM_002496.4
p.R54W
c.160C>T
1 paper
NM_002496.4
p.R54Q
c.161G>A
1 paper
NM_002496.4
p.L59P
c.176T>C
1 paper
NM_002496.4
p.W61R
c.181T>A
1 paper
NM_002496.4
p.W61R
c.181T>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."