Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.P21H

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.P21H
c.62C>A
Surrounding Variants
1 paper
NM_002496.4
p.P22S
c.64C>T
1 paper
NM_002496.4
p.R25Q
c.74G>A
1 paper
NM_002496.4
p.G20Splc
c.59-22C>G
1 paper
NM_002496.4
p.Y36*
c.108C>G
1 paper
NM_002496.4
p.G20R
c.58G>A
1 paper
NM_002496.4
p.G20R
c.58G>C
4 papers
NM_002496.4
p.R18C
c.52C>T
1 paper
NM_002496.4
p.A16V
c.47C>T
1 paper
NM_002496.4
p.R11Q
c.32G>A
1 paper
NM_002496.4
p.P7T
c.19C>A
1 paper
NM_002496.4
p.T6_A12delFs
c.18_36del19
1 paper
NM_002496.4
p.T6_A14delFs
c.17_42del26
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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."