Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV3
Variant:p.S104R

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
1 paper
NM_021075.4
p.S104R
c.312C>A
Surrounding Variants
1 paper
NM_021075.4
p.S104R
c.312C>G
1 paper
NM_021075.4
p.S104R
c.310A>C
2 papers
NM_021075.4
p.G103D
c.308G>A
1 paper
NM_021075.4
p.P101R
c.302C>G
1 paper
NM_021075.4
p.D109H
c.325G>C
1 paper
NM_021075.4
p.D109Y
c.325G>T
1 paper
NM_021075.4
p.P99L
c.296C>T
1 paper
NM_021075.4
p.A97V
c.290C>T
1 paper
NM_021075.4
p.V96L
c.286G>C
1 paper
NM_021075.4
p.V96L
c.286G>T
1 paper
NM_021075.4
p.V96del1
c.286_287delGTA
1 paper
NM_021075.4
p.K95_V96del1
c.285_287delGGT
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