Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD4
Variant:p.C53S

CHCHD4

39 papers

RefSeq Summary

CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et a...

Pfam Domains

CHCHaa 64–100UCSCCHCH domain

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 4

HGNC Alias Symbols

FLJ31709; TIMM40; MIA40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001098502.2
p.C53S
c.157T>A
Surrounding Variants
4 papers
NM_001098502.2
p.C53S
c.158G>C
3 papers
NM_001098502.2
p.C55S
c.163T>A
3 papers
NM_001098502.2
p.C55S
c.164G>C
1 paper
NM_001098502.2
p.G58R
c.172G>C
1 paper
NM_001098502.2
p.G58R
c.172G>A
1 paper
NM_001098502.2
p.M59R
c.176T>G
1 paper
NM_001098502.2
p.S61N
c.182G>A
1 paper
NM_001098502.2
p.C64S
c.190T>A
1 paper
NM_001098502.2
p.C64S
c.191G>C
1 paper
NM_001098502.2
p.F72V
c.214T>G
1 paper
NM_001098502.2
p.C74fs
c.220_221fs
1 paper
NM_001098502.2
p.F75delFs
c.225delG
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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."