Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.A100_L101delFs

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.A100_L101delFs
c.300_301delGC
Surrounding Variants
3 papers
NM_002496.4
p.R102C
c.304C>T
28 papers
NM_002496.4
p.R102H
c.305G>A
1 paper
NM_002496.4
p.R103W
c.307C>T
1 paper
NM_002496.4
p.R96H
c.287G>A
11 papers
NM_002496.4
p.R94C
c.280C>T
1 paper
NM_002496.4
p.P105L
c.314C>T
1 paper
NM_002496.4
p.R110G
c.328C>G
1 paper
NM_002496.4
p.R110H
c.329G>A
1 paper
NM_002496.4
p.G89C
c.265G>T
1 paper
NM_002496.4
p.K88insFs
c.263_264insC
1 paper
NM_002496.4
p.E87V
c.260A>T
9 papers
NM_002496.4
p.P85L
c.254C>T
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