Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.V64fs

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.V64fs
c.190_191fs
Surrounding Variants
1 paper
NM_213720.3
p.V64I
c.190G>A
1 paper
NM_213720.3
p.V64V
c.192C>T
1 paper
NM_213720.3
p.H63R
c.188A>G
1 paper
NM_213720.3
p.M65L
c.193A>T
1 paper
NM_213720.3
p.M65V
c.193A>G
1 paper
NM_213720.3
p.M65L
c.193A>C
2 papers
NM_213720.3
p.G62V
c.185G>T
1 paper
NM_213720.3
p.G62R
c.184G>C
4 papers
NM_213720.3
p.G66S
c.196G>A
1 paper
NM_213720.3
p.G62R
c.184G>A
83 papers
NM_213720.3
p.G66V
c.197G>T
2 papers
NM_213720.3
p.V61M
c.181G>A
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