Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD4
Variant:p.S85A

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.S85A
c.253T>G
Surrounding Variants
1 paper
NM_001098502.2
p.C87S
c.259T>A
1 paper
NM_001098502.2
p.C87S
c.260G>C
1 paper
NM_001098502.2
p.I82T
c.245T>C
1 paper
NM_001098502.2
p.D89Y
c.265G>T
1 paper
NM_001098502.2
p.T79M
c.236C>T
1 paper
NM_001098502.2
p.F75delFs
c.225delG
1 paper
NM_001098502.2
p.C74fs
c.220_221fs
1 paper
NM_001098502.2
p.F72V
c.214T>G
2 papers
NM_001098502.2
p.K100delFs
c.300delT
1 paper
NM_001098502.2
p.D103N
c.307G>A
1 paper
NM_001098502.2
p.C64S
c.191G>C
1 paper
NM_001098502.2
p.C64S
c.190T>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."