Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10

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
1–12 of 244 variants
154 papers
NM_213720.3
p.S59L
c.176C>T
87 papers
NM_213720.3
p.R15L
c.44G>T
83 papers
NM_213720.3
p.G66V
c.197G>T
54 papers
NM_213720.3
p.P34S
c.100C>T
46 papers
NM_213720.3
p.G58R
c.172G>C
35 papers
NM_213720.3
p.P80L
c.239C>T
24 papers
NM_213720.3
p.R15S
c.43C>A
18 papers
NM_213720.3
p.P12S
c.34C>T
16 papers
NM_213720.3
p.A35D
c.104C>A
16 papers
NM_213720.3
p.Q82*
c.244C>T
15 papers
NM_213720.3
p.V57E
c.170T>A
13 papers
NM_213720.3
p.P23T
c.67C>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."