Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.P28insFs

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.P28insFs
c.84dupG
Surrounding Variants
3 papers
NM_213720.3
p.S30L
c.89C>T
1 paper
NM_213720.3
p.A32P
c.94G>C
8 papers
NM_213720.3
p.A32T
c.94G>A
1 paper
NM_213720.3
p.A25A
c.75G>C
1 paper
NM_213720.3
p.A25A
c.75G>A
10 papers
NM_213720.3
p.A32D
c.95C>A
1 paper
NM_213720.3
p.A25V
c.74C>T
1 paper
NM_213720.3
p.A33S
c.97G>T
1 paper
NM_213720.3
p.P24P
c.72C>A
1 paper
NM_213720.3
p.P24L
c.71C>T
2 papers
NM_213720.3
p.P24R
c.71C>G
54 papers
NM_213720.3
p.P34S
c.100C>T
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