Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.I80V

CHCHD2

169 papers

RefSeq Summary

The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide l...

Pfam Domains

CHCHaa 114–147UCSCCHCH domain

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 2

HGNC Previous Symbol

C7orf17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
24 papers
NM_016139.4
p.I80V
c.238A>G
Surrounding Variants
1 paper
NM_016139.4
p.I80L
c.238A>C
6 papers
NM_016139.4
p.A79S
c.235G>T
2 papers
NM_016139.4
p.A79T
c.235G>A
1 paper
NM_016139.4
p.H78N
c.232C>A
2 papers
NM_016139.4
p.G82A
c.245G>C
1 paper
NM_016139.4
p.G83G
c.249C>T
1 paper
NM_016139.4
p.G83insFs
c.248_249insG
12 papers
NM_016139.4
p.S85R
c.253A>C
12 papers
NM_016139.4
p.S85R
c.255T>G
1 paper
NM_016139.4
p.S85S
c.255T>C
12 papers
NM_016139.4
p.S85R
c.255T>A
2 papers
NM_016139.4
p.G73E
c.218G>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."