Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA5
Variant:p.V65G

NDUFA5

99 papers

RefSeq Summary

This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, whe...

Pfam Domains

ETC_C1_NDUFA5aa 6–64UCSCETC complex I subunit conserved region

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A5

HGNC Alias Symbols

B13; NUFM; CI-13KD-B; UQOR13; CI-13kB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005000.5
p.V65G
c.194T>G
Surrounding Variants
1 paper
NM_005000.5
p.V65V
c.195T>C
1 paper
NM_005000.5
p.V65L
c.193G>C
1 paper
NM_005000.5
p.D64E
c.192T>G
1 paper
NM_005000.5
p.D64E
c.192T>A
1 paper
NM_005000.5
p.D64N
c.190G>A
1 paper
NM_005000.5
p.K67E
c.199A>G
1 paper
NM_005000.5
p.P63T
c.187C>A
1 paper
NM_005000.5
p.E69Q
c.205G>C
1 paper
NM_005000.5
p.A61_E62Splc
c.184-1G>C
1 paper
NM_005000.5
p.E69del1
c.205_206delTTC
1 paper
NM_005000.5
p.E79K
c.235G>A
2 papers
NM_005000.5
p.I81T
c.242T>C
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