Varaico: Literature-Extracted Genetic Variants

Gene:COX14

COX14

13 papers

RefSeq Summary

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as com...

Pfam Domains

COX14aa 1–57UCSCCytochrome oxidase c assembly

Gene Aliases

HGNC Name

cytochrome c oxidase assembly factor COX14

HGNC Previous Symbol

C12orf62

Papers
RefSeq ID
Protein change
DNA change
3 papers
NM_032901.4
p.M19I
c.57G>A
3 papers
NM_032901.4
p.M19I
c.57G>C
3 papers
NM_032901.4
p.M19I
c.57G>T
1 paper
NM_032901.4
p.T14delFs
c.42delC
1 paper
NM_032901.4
p.V24M
c.70G>A
1 paper
NM_032901.4
p.Y28fs
c.82_83fs
1 paper
NM_032901.4
p.S31N
c.92G>A
1 paper
NM_032901.4
p.M57I
c.171G>A
1 paper
NM_032901.4
p.M57I
c.171G>C
1 paper
NM_032901.4
p.M57I
c.171G>T
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