Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.R15L

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
87 papers
NM_213720.3
p.R15L
c.44G>T
Surrounding Variants
1 paper
NM_213720.3
p.R15C
c.43C>T
24 papers
NM_213720.3
p.R15S
c.43C>A
1 paper
NM_213720.3
p.R15delins
c.44_45delinsTT
3 papers
NM_213720.3
p.P16P
c.48A>C
2 papers
NM_213720.3
p.S14Splc
c.42-2A>C
1 paper
NM_213720.3
p.S14Splc
c.42-7C>G
1 paper
NM_213720.3
p.P19P
c.57C>A
2 papers
NM_213720.3
p.A21A
c.63C>T
12 papers
NM_213720.3
p.H22Y
c.64C>T
1 paper
NM_213720.3
p.H22P
c.65A>C
9 papers
NM_213720.3
p.P23S
c.67C>T
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."