Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV2
Variant:p.R143P

NDUFV2

112 papers

RefSeq Summary

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The com...

Pfam Domains

2Fe-2S_thioredxaa 63–209UCSCThioredoxin-like [2Fe-2S] ferredoxin

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit V2

HGNC Alias Symbol

CI-24k

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_021074.5
p.R143P
c.428G>C
Surrounding Variants
5 papers
NM_021074.5
p.R143*
c.427C>T
1 paper
NM_021074.5
p.S145delFs
c.434_435delCT
1 paper
NM_021074.5
p.S145fs
c.433_434fs
1 paper
NM_021074.5
p.T138K
c.413C>A
2 papers
NM_021074.5
p.C135S
c.404G>C
1 paper
NM_021074.5
p.C135S
c.403T>A
8 papers
NM_021074.5
p.V134A
c.401T>C
2 papers
NM_021074.5
p.H131D
c.391C>G
2 papers
NM_021074.5
p.L156H
c.467T>A
3 papers
NM_021074.5
p.V127V
c.381T>C
1 paper
NM_021074.5
p.V127A
c.380T>C
1 paper
NM_021074.5
p.R124P
c.371G>C
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