Varaico: Literature-Extracted Genetic Variants

Gene:CASP6
Variant:p.L151P

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.L151P
c.452T>C
Surrounding Variants
1 paper
NM_001226.4
p.S150I
c.449G>T
1 paper
NM_001226.4
p.C148F
c.443G>T
1 paper
NM_001226.4
p.C148R
c.442T>C
1 paper
NM_001226.4
p.P155T
c.463C>A
1 paper
NM_001226.4
p.P155fs
c.463_464fs
1 paper
NM_001226.4
p.D146E
c.438C>G
1 paper
NM_001226.4
p.D146E
c.438C>A
1 paper
NM_001226.4
p.D146Y
c.436G>T
1 paper
NM_001226.4
p.L139L
c.415T>C
1 paper
NM_001226.4
p.Q137*
c.409C>T
1 paper
NM_001226.4
p.D131A
c.392A>C
1 paper
NM_001226.4
p.I127N
c.380T>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."