Varaico: Literature-Extracted Genetic Variants

Gene:CASP5
Variant:p.K19*

CASP5

78 papers

RefSeq Summary

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as i...

Pfam Domains

CARDaa 61–146UCSCCaspase recruitment domain
CARDaa 61–146UCSCCaspase recruitment domain
Peptidase_C14aa 192–429UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 5

HGNC Alias Symbol

ICE(rel)III

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004347.5
p.K19*
c.55A>T
Surrounding Variants
1 paper
NM_004347.5
p.K19N
c.57A>T
1 paper
NM_004347.5
p.K19N
c.57A>C
2 papers
NM_004347.5
p.A16A
c.48T>A
3 papers
NM_001136112.3
p.R23fs
c.67_68fs
NM_004347.5
p.R10fs
c.28_29fs
2 papers
NM_001136112.3
p.R23delFs
c.67delT
NM_004347.5
p.R10delFs
c.28delT
1 paper
NM_004347.5
p.R10fs
c.28_29fs
1 paper
NM_004347.5
p.D27delFs
c.80_81delAT
1 paper
NM_004347.5
p.K36delFs
c.107delT
1 paper
NM_004347.5
p.N37Y
c.109A>T
1 paper
NM_004347.5
p.T43A
c.127A>G
1 paper
NM_004347.5
p.T52insFs
c.154dupA
1 paper
NM_004347.5
p.T52delFs
c.154delT
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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."