Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.G4R

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
4 papers
NM_213720.3
p.G4R
c.10G>A
Surrounding Variants
4 papers
NM_213720.3
p.G4R
c.10G>C
1 paper
NM_213720.3
p.G4Fs
c.11delinsAGFs
1 paper
NM_213720.3
p.R3P
c.8G>C
1 paper
NM_213720.3
p.G4Fs
c.12delinsGCFs
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.S5N
c.14G>A
7 papers
NM_213720.3
p.P2L
c.5C>T
3 papers
NM_213720.3
p.S5R
c.15C>G
1 paper
NM_213720.3
p.P2R
c.5C>G
3 papers
NM_213720.3
p.S5R
c.15C>A
3 papers
NM_213720.3
p.P2S
c.4C>T
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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."