Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV3
Variant:p.K43insFs

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.K43insFs
c.127_128insA
Surrounding Variants
1 paper
NM_021075.4
p.K40K
c.120G>A
1 paper
NM_021075.4
p.P46_S49delFs
c.136_145del10
1 paper
NM_021075.4
p.A36G
c.107C>G
1 paper
NM_021075.4
p.N48_K51delFs
c.142_151del10
1 paper
NM_021075.4
p.N48_K50delFs
c.144_150del7
1 paper
NM_021075.4
p.S49C
c.146C>G
6 papers
NM_021075.4
p.K56N
c.168A>C
6 papers
NM_021075.4
p.K56N
c.168A>T
3 papers
NM_021075.4
p.R26Q
c.77G>A
1 paper
NM_021075.4
p.N57Splc
c.170-5371G>A
1 paper
NM_021075.4
p.N57Splc
c.170-4738G>T
2 papers
NM_021075.4
p.P4R
c.11C>G
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