Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.H22P

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.H22P
c.65A>C
Surrounding Variants
12 papers
NM_213720.3
p.H22Y
c.64C>T
9 papers
NM_213720.3
p.P23S
c.67C>T
2 papers
NM_213720.3
p.A21A
c.63C>T
13 papers
NM_213720.3
p.P23T
c.67C>A
9 papers
NM_213720.3
p.P23L
c.68C>T
1 paper
NM_213720.3
p.P24L
c.71C>T
2 papers
NM_213720.3
p.P24R
c.71C>G
1 paper
NM_213720.3
p.P24P
c.72C>A
1 paper
NM_213720.3
p.P19P
c.57C>A
1 paper
NM_213720.3
p.A25V
c.74C>T
1 paper
NM_213720.3
p.A25A
c.75G>C
1 paper
NM_213720.3
p.A25A
c.75G>A
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