Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.A134P

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.A134P
c.400G>C
Surrounding Variants
1 paper
NM_002496.4
p.S137R
c.411C>G
1 paper
NM_002496.4
p.R138S
c.412C>A
1 paper
NM_002496.4
p.R138C
c.412C>T
8 papers
NM_002496.4
p.R138H
c.413G>A
1 paper
NM_002496.4
p.E129K
c.385G>A
2 papers
NM_002496.4
p.I128M
c.384C>G
1 paper
NM_002496.4
p.A130_E131del2
c.388_392del6
1 paper
NM_002496.4
p.I126V
c.376A>G
1 paper
NM_002496.4
p.Q124_A125Splc
c.373-9C>G
1 paper
NM_002496.4
p.D146V
c.437A>T
2 papers
NM_002496.4
p.M147I
c.441G>A
2 papers
NM_002496.4
p.M147I
c.441G>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."