Varaico: Literature-Extracted Genetic Variants

Gene:CASP6
Variant:p.V115A

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.V115A
c.344T>C
Surrounding Variants
1 paper
NM_001226.4
p.C116R
c.346T>C
1 paper
NM_001226.4
p.F114C
c.341T>G
1 paper
NM_001226.4
p.F118S
c.353T>C
1 paper
NM_001226.4
p.L119P
c.356T>C
1 paper
NM_001226.4
p.H121P
c.362A>C
2 papers
NM_001226.4
p.A109T
c.325G>A
1 paper
NM_001226.4
p.G122D
c.365G>A
2 papers
NM_001226.4
p.E123K
c.367G>A
1 paper
NM_001226.4
p.E123G
c.368A>G
1 paper
NM_001226.4
p.V106I
c.316G>A
1 paper
NM_001226.4
p.I127N
c.380T>A
1 paper
NM_001226.4
p.D131A
c.392A>C
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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."