Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA8
Variant:p.R101S

NDUFA8

44 papers

RefSeq Summary

The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreducta...

Pfam Domains

CHCHaa 78–113UCSCCHCH domain

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A8

HGNC Alias Symbols

PGIV; MGC793

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014222.3
p.R101S
c.301C>A
Surrounding Variants
2 papers
NM_014222.3
p.R98L
c.293G>T
2 papers
NM_014222.3
p.Q95R
c.284A>G
1 paper
NM_014222.3
p.Q95*
c.283C>T
1 paper
NM_014222.3
p.Q94H
c.282G>T
6 papers
NM_014222.3
p.E109K
c.325G>A
1 paper
NM_014222.3
p.T87I
c.260C>T
1 paper
NM_014222.3
p.K75delFs
c.225delT
1 paper
NM_014222.3
p.K127_V128Splc
c.382-1835G>A
2 papers
NM_014222.3
p.R135Q
c.404G>A
1 paper
NM_014222.3
p.P138L
c.413C>T
1 paper
NM_014222.3
p.N140H
c.418A>C
1 paper
NM_014222.3
p.T129_Y142del14
c.385_425del42
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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."