Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD4
Variant:p.M1K

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
1 paper
NM_001098502.2
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_001098502.2
p.M1I
c.3G>A
1 paper
NM_001098502.2
p.M1L
c.1A>T
1 paper
NM_001098502.2
p.M1L
c.1A>C
1 paper
NM_001098502.2
p.S2F
c.5C>T
1 paper
NM_001098502.2
p.Y3*
c.9T>G
1 paper
NM_001098502.2
p.C4S
c.10T>A
1 paper
NM_001098502.2
p.C4S
c.11G>C
1 paper
NM_001098502.2
p.G8Splc
c.22+1G>T
1 paper
NM_001098502.2
p.G8Splc
c.22+2693T>C
1 paper
NM_001098502.2
p.H20R
c.59A>G
4 papers
NM_001098502.2
p.P23Q
c.68C>A
1 paper
NM_001098502.2
p.P33R
c.98C>G
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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."