Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.A72T

CHCHD10

292 papers

RefSeq Summary

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations...

Pfam Domains

CHCHaa 109–141UCSCCHCH domain

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 10

HGNC Previous Symbol

C22orf16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_213720.3
p.A72T
c.214G>A
Surrounding Variants
1 paper
NM_213720.3
p.A72P
c.214G>C
1 paper
NM_213720.3
p.A72V
c.215C>T
1 paper
NM_213720.3
p.A72G
c.215C>G
1 paper
NM_213720.3
p.G71A
c.212G>C
2 papers
NM_213720.3
p.G71R
c.211G>C
1 paper
NM_213720.3
p.G71R
c.211G>A
1 paper
NM_213720.3
p.T70A
c.208A>G
1 paper
NM_213720.3
p.S74N
c.221G>A
1 paper
NM_213720.3
p.L69L
c.207G>A
2 papers
NM_213720.3
p.G75A
c.224G>C
1 paper
NM_213720.3
p.A68V
c.203C>T
1 paper
NM_213720.3
p.A68S
c.202G>T
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