Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV3
Variant:p.E276K

NDUFV3

67 papers

RefSeq Summary

The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves t...

Pfam Domains

NDUFV3aa 67–101UCSCNADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit V3

HGNC Alias Symbol

CI-10k

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_021075.4
p.E276K
c.826G>A
Surrounding Variants
1 paper
NM_021075.4
p.R273K
c.818G>A
1 paper
NM_021075.4
p.F285_V287del3
c.853_860del9
1 paper
NM_021075.4
p.E257Q
c.769G>C
1 paper
NM_021075.4
p.A301A
c.903G>A
1 paper
NM_021075.4
p.E222Q
c.664G>C
1 paper
NM_021075.4
p.L349L
c.1047G>T
8 papers
NM_021075.4
p.R200*
c.598C>T
1 paper
NM_021075.4
p.R200fs
c.598_599fs
1 paper
NM_021075.4
p.A198V
c.593C>T
1 paper
NM_021075.4
p.R200delFs
c.598delC
1 paper
NM_021075.4
p.E195Q
c.583G>C
1 paper
NM_021075.4
p.G184insFs
c.552dupG
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