Varaico: Literature-Extracted Genetic Variants

Gene:CASP6

CASP6

95 papers

RefSeq Summary

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases...

Pfam Domains

Peptidase_C14aa 44–287UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 6

HGNC Alias Symbols

MCH2; caspase-6; CSP-6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
5 papers
NM_001226.4
p.C163S
c.487T>A
5 papers
NM_001226.4
p.C163S
c.488G>C
4 papers
NM_001226.4
p.R65W
c.193C>T
4 papers
NM_001226.4
p.G66R
c.196G>C
3 papers
NM_001226.4
p.E35K
c.103G>A
3 papers
NM_001226.4
p.R44K
c.131G>A
3 papers
NM_001226.4
p.N73T
c.218A>C
3 papers
NM_001226.4
p.R259H
c.776G>A
2 papers
NM_001226.4
p.D23V
c.68A>T
2 papers
NM_001226.4
p.A109T
c.325G>A
2 papers
NM_001226.4
p.E123K
c.367G>A
2 papers
NM_001226.4
p.R220W
c.658C>T
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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."