Varaico: Literature-Extracted Genetic Variants

Gene:CASP6
Variant:p.E183D

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.E183D
c.549G>C
Surrounding Variants
1 paper
NM_001226.4
p.E183D
c.549G>T
1 paper
NM_001226.4
p.K184Q
c.550A>C
1 paper
NM_001226.4
p.T182S
c.544A>T
1 paper
NM_001226.4
p.E191K
c.571G>A
1 paper
NM_001226.4
p.P174S
c.520C>T
1 paper
NM_001226.4
p.Y198H
c.592T>C
1 paper
NM_001226.4
p.D169G
c.506A>G
1 paper
NM_001226.4
p.D169N
c.505G>A
1 paper
NM_001226.4
p.Y198S
c.593A>C
1 paper
NM_001226.4
p.Q167H
c.501G>T
1 paper
NM_001226.4
p.Q167H
c.501G>C
1 paper
NM_001226.4
p.P201A
c.601C>G
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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."