Varaico: Literature-Extracted Genetic Variants

Gene:COXFA4L2
Variant:p.P56fs

COXFA4L2

16 papers

Pfam Domains

B12Daa 15–68UCSCNADH-ubiquinone reductase complex 1 MLRQ subunit

Gene Aliases

HGNC Name

cytochrome c oxidase hypoxia associated subunit FA4L2

HGNC Previous Symbol

NDUFA4L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394961.1
p.P56fs
c.166_167fs
Surrounding Variants
1 paper
NM_001394961.1
p.P56delFs
c.167delG
1 paper
NM_001394961.1
p.R61H
c.182G>A
1 paper
NM_001394961.1
p.L62insFs
c.184dupC
1 paper
NM_001394961.1
p.C49Y
c.146G>A
1 paper
NM_001394961.1
p.K69_F70Splc
c.207+1G>A
1 paper
NM_001394961.1
p.L71L
c.213T>G
1 paper
NM_001394961.1
p.L80P
c.239T>C
1 paper
NM_001394961.1
p.C49Y
c.146G>A
1 paper
NM_001394961.1
p.V48I
c.142G>A
1 paper
NM_001394961.1
p.A35V
c.104C>T
1 paper
NM_001394961.1
p.G30C
c.88G>T
1 paper
NM_001394961.1
p.C28F
c.83G>T
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