Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.Q82*

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
16 papers
NM_213720.3
p.Q82*
c.244C>T
Surrounding Variants
1 paper
NM_213720.3
p.P83L
c.248C>T
35 papers
NM_213720.3
p.P80L
c.239C>T
1 paper
NM_213720.3
p.E79K
c.235G>A
2 papers
NM_213720.3
p.S78S
c.234G>C
5 papers
NM_213720.3
p.S78S
c.234G>A
3 papers
NM_213720.3
p.S77G
c.229A>G
1 paper
NM_213720.3
p.Q87L
c.260A>T
1 paper
NM_213720.3
p.G76V
c.227G>T
1 paper
NM_213720.3
p.G76A
c.227G>C
2 papers
NM_213720.3
p.G75A
c.224G>C
1 paper
NM_213720.3
p.Q87_A88Splc
c.261+4A>G
1 paper
NM_213720.3
p.S74N
c.221G>A
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