Varaico: Literature-Extracted Genetic Variants

Gene:CASP5
Variant:p.L334V

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
2 papers
NM_004347.5
p.L334V
c.1000C>G
Surrounding Variants
1 paper
NM_004347.5
p.E318K
c.952G>A
1 paper
NM_004347.5
p.E354D
c.1062G>T
1 paper
NM_004347.5
p.E354D
c.1062G>C
1 paper
NM_004347.5
p.S362fs
c.1084_1085fs
1 paper
NM_004347.5
p.E318Splc
c.952+6T>A
1 paper
NM_004347.5
p.R316*
c.946A>T
1 paper
NM_004347.5
p.K306E
c.916A>G
1 paper
NM_004347.5
p.D305G
c.914A>G
1 paper
NM_004347.5
p.D305H
c.913G>C
1 paper
NM_004347.5
p.D305N
c.913G>A
1 paper
NM_004347.5
p.L264F
c.790C>T
1 paper
NM_004347.5
p.R246T
c.737G>C
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