Varaico: Literature-Extracted Genetic Variants

Gene:CASP5
Variant:p.L75R

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
3 papers
NM_004347.5
p.L75R
c.224T>G
Surrounding Variants
1 paper
NM_004347.5
p.H81insFs
c.241_242insA
1 paper
NM_004347.5
p.H81insFs
c.241dupC
1 paper
NM_004347.5
p.L80_H81del2
c.238_242del6
3 papers
NM_004347.5
p.T68fs
c.202_203fs
3 papers
NM_001136112.3
p.T81insFs
c.241dupA
NM_004347.5
p.T68insFs
c.202dupA
1 paper
NM_001136112.3
p.K80_T81insFs
c.240_241dupAA
2 papers
NM_001136112.3
p.T81delFs
c.241delT
NM_004347.5
p.T68delFs
c.202delT
1 paper
NM_004347.5
p.T68fs
c.202_203fs
1 paper
NM_004347.5
p.K65fs
c.193_194fs
4 papers
NM_004347.5
p.T106A
c.316A>G
2 papers
NM_004347.5
p.S118C
c.353C>G
1 paper
NM_004347.5
p.S118Y
c.353C>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."