Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.A53V

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
2 papers
NM_213720.3
p.A53V
c.158C>T
Surrounding Variants
2 papers
NM_213720.3
p.A53S
c.157G>T
5 papers
NM_213720.3
p.A53T
c.157G>A
4 papers
NM_213720.3
p.G54R
c.160G>C
4 papers
NM_213720.3
p.G54R
c.160G>A
1 paper
NM_213720.3
p.A52A
c.156C>T
1 paper
NM_213720.3
p.G54E
c.161G>A
1 paper
NM_213720.3
p.A52V
c.155C>T
1 paper
NM_213720.3
p.T51T
c.153G>T
1 paper
NM_213720.3
p.T51T
c.153G>C
1 paper
NM_213720.3
p.T51A
c.151A>G
1 paper
NM_213720.3
p.A56V
c.167C>T
1 paper
NM_213720.3
p.A56A
c.168C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."