Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.G43V

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.G43V
c.128G>T
Surrounding Variants
1 paper
NM_213720.3
p.G43G
c.129G>A
1 paper
NM_213720.3
p.L44F
c.130C>T
1 paper
NM_213720.3
p.L44L
c.132C>T
1 paper
NM_213720.3
p.M45K
c.134T>A
1 paper
NM_213720.3
p.Q41R
c.122A>G
2 papers
NM_213720.3
p.Q41*
c.121C>T
1 paper
NM_213720.3
p.A46S
c.136G>T
1 paper
NM_213720.3
p.A46V
c.137C>T
1 paper
NM_213720.3
p.S39W
c.116C>G
1 paper
NM_213720.3
p.Q47Q
c.141G>A
1 paper
NM_213720.3
p.M48T
c.143T>C
1 paper
NM_213720.3
p.M48K
c.143T>A
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