Varaico: Literature-Extracted Genetic Variants

Gene:CASP6
Variant:p.M30I

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.M30I
c.90G>C
Surrounding Variants
1 paper
NM_001226.4
p.M30I
c.90G>T
1 paper
NM_001226.4
p.M30I
c.90G>A
1 paper
NM_001226.4
p.F31L
c.93T>G
1 paper
NM_001226.4
p.D32N
c.94G>A
1 paper
NM_001226.4
p.R28K
c.83G>A
1 paper
NM_001226.4
p.P33A
c.97C>G
1 paper
NM_001226.4
p.A34T
c.100G>A
1 paper
NM_001226.4
p.A34E
c.101C>A
1 paper
NM_001226.4
p.E35*
c.103G>T
3 papers
NM_001226.4
p.E35K
c.103G>A
1 paper
NM_001226.4
p.E35A
c.104A>C
3 papers
NM_001226.4
p.R44K
c.131G>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."