Varaico: Literature-Extracted Genetic Variants

Gene:CASP6
Variant:p.F55V

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.F55V
c.163T>G
Surrounding Variants
1 paper
NM_001226.4
p.F55Y
c.164T>A
1 paper
NM_001226.4
p.P62L
c.185C>T
4 papers
NM_001226.4
p.R65W
c.193C>T
3 papers
NM_001226.4
p.R44K
c.131G>A
4 papers
NM_001226.4
p.G66R
c.196G>C
1 paper
NM_001226.4
p.G66A
c.197G>C
1 paper
NM_001226.4
p.G66D
c.197G>A
1 paper
NM_001226.4
p.C68F
c.203G>T
1 paper
NM_001226.4
p.D70E
c.210T>G
1 paper
NM_001226.4
p.D70E
c.210T>A
3 papers
NM_001226.4
p.N73T
c.218A>C
1 paper
NM_001226.4
p.E35A
c.104A>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."