Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.P12S

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
18 papers
NM_213720.3
p.P12S
c.34C>T
Surrounding Variants
1 paper
NM_213720.3
p.P12R
c.35C>G
1 paper
NM_213720.3
p.A13T
c.37G>A
5 papers
NM_213720.3
p.R11G
c.31C>G
1 paper
NM_213720.3
p.A8T
c.22G>A
4 papers
NM_213720.3
p.R6G
c.16C>G
3 papers
NM_213720.3
p.S5R
c.15C>G
3 papers
NM_213720.3
p.S5R
c.15C>A
1 paper
NM_213720.3
p.S5N
c.14G>A
1 paper
NM_213720.3
p.S5C
c.13A>T
3 papers
NM_213720.3
p.S5R
c.13A>C
1 paper
NM_213720.3
p.G4Fs
c.12delinsGCFs
1 paper
NM_213720.3
p.G4Fs
c.11delinsAGFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."