Varaico: Literature-Extracted Genetic Variants

Gene:COXFA4L3

COXFA4L3

14 papers

RefSeq Summary

This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gen...

Pfam Domains

B12Daa 8–60UCSCNADH-ubiquinone reductase complex 1 MLRQ subunit

Gene Aliases

HGNC Name

cytochrome c oxidase associated subunit FA4L3

HGNC Previous Symbol

C15orf48

Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
2 papers
NM_197955.3
p.N47delFs
c.140delA
1 paper
NM_197955.3
p.E12fs
c.34_35fs
1 paper
NM_197955.3
p.E12delFs
c.35_36delAA
1 paper
NM_197955.3
p.A31P
c.91G>C
1 paper
NM_197955.3
p.S34F
c.101C>T
1 paper
NM_197955.3
p.L35_W36del2
c.103_107del6
1 paper
NM_197955.3
p.I41Splc
c.122+71A>G
1 paper
NM_197955.3
p.R44Q
c.131G>A
1 paper
NM_197955.3
p.R44insFs
c.131_132insA
1 paper
NM_197955.3
p.N47fs
c.139_140fs
1 paper
NM_197955.3
p.N47fs
c.139_140fs
1 paper
NM_197955.3
p.V54M
c.160G>A
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