Varaico: Literature-Extracted Genetic Variants

Gene:CASP6
Variant:p.Q230E

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
Selected Variant
1 paper
NM_001226.4
p.Q230E
c.688C>G
Surrounding Variants
1 paper
NM_001226.4
p.Q230H
c.690A>T
1 paper
NM_001226.4
p.Q230H
c.690A>C
1 paper
NM_001226.4
p.Y228H
c.682T>C
1 paper
NM_001226.4
p.C233Y
c.698G>A
1 paper
NM_001226.4
p.R220Q
c.659G>A
2 papers
NM_001226.4
p.R220W
c.658C>T
1 paper
NM_001226.4
p.E244A
c.731A>C
1 paper
NM_001226.4
p.E247K
c.739G>A
1 paper
NM_001226.4
p.K255T
c.764A>C
1 paper
NM_001226.4
p.K255insFs
c.764dupA
1 paper
NM_001226.4
p.R259C
c.775C>T
3 papers
NM_001226.4
p.R259H
c.776G>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."