Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.P2R

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.P2R
c.5C>G
Surrounding Variants
7 papers
NM_213720.3
p.P2L
c.5C>T
3 papers
NM_213720.3
p.P2S
c.4C>T
1 paper
NM_213720.3
p.P2T
c.4C>A
1 paper
NM_213720.3
p.M1I
c.3G>T
1 paper
NM_213720.3
p.M1I
c.3G>C
1 paper
NM_213720.3
p.M1I
c.3G>A
1 paper
NM_213720.3
p.M1T
c.2T>C
1 paper
NM_213720.3
p.M1K
c.2T>A
1 paper
NM_213720.3
p.R3P
c.8G>C
1 paper
NM_213720.3
p.M1V
c.1A>G
4 papers
NM_213720.3
p.G4R
c.10G>C
4 papers
NM_213720.3
p.G4R
c.10G>A
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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."