Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.G58R

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
46 papers
NM_213720.3
p.G58R
c.172G>C
Surrounding Variants
2 papers
NM_213720.3
p.G58D
c.173G>A
1 paper
NM_213720.3
p.V57V
c.171G>A
15 papers
NM_213720.3
p.V57E
c.170T>A
154 papers
NM_213720.3
p.S59L
c.176C>T
1 paper
NM_213720.3
p.A56A
c.168C>G
1 paper
NM_213720.3
p.A56V
c.167C>T
2 papers
NM_213720.3
p.V61M
c.181G>A
1 paper
NM_213720.3
p.G54E
c.161G>A
4 papers
NM_213720.3
p.G54R
c.160G>C
1 paper
NM_213720.3
p.G62R
c.184G>C
4 papers
NM_213720.3
p.G54R
c.160G>A
1 paper
NM_213720.3
p.G62R
c.184G>A
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