Varaico: Literature-Extracted Genetic Variants

Gene:COXFA4
Variant:p.K73R

COXFA4

32 papers

RefSeq Summary

The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydr...

Pfam Domains

B12Daa 10–62UCSCNADH-ubiquinone reductase complex 1 MLRQ subunit

Gene Aliases

HGNC Name

cytochrome c oxidase associated subunit FA4

HGNC Previous Symbol

NDUFA4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002489.4
p.K73R
c.218A>G
Surrounding Variants
1 paper
NM_002489.4
p.P79L
c.236C>T
1 paper
NM_002489.4
p.F81L
c.241T>C
1 paper
NM_002489.4
p.F81L
c.243C>G
1 paper
NM_002489.4
p.F81L
c.243C>A
1 paper
NM_002489.4
p.K63_F64Splc
c.190-1G>A
1 paper
NM_002489.4
p.Q61H
c.183A>T
1 paper
NM_002489.4
p.Q61H
c.183A>C
1 paper
NM_002489.4
p.N59I
c.176A>T
1 paper
NM_002489.4
p.G57delFs
c.169delC
1 paper
NM_002489.4
p.W45C
c.135G>T
1 paper
NM_002489.4
p.W45C
c.135G>C
4 papers
NM_002489.4
p.C44Splc
c.131+1G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."