Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.D59N

CASP1

574 papers

RefSeq Summary

This gene encodes a protein which is 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. ...

Pfam Domains

CARDaa 3–90UCSCCaspase recruitment domain
CARDaa 3–90UCSCCaspase recruitment domain
Peptidase_C14aa 162–399UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 1

HGNC Previous Symbol

IL1BC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001257118.3
p.D59N
c.175G>A
Surrounding Variants
1 paper
NM_001257118.3
p.V61I
c.181G>A
1 paper
NM_001257118.3
p.P63S
c.187C>T
1 paper
NM_001257118.3
p.R55*
c.163C>T
1 paper
NM_001257118.3
p.R55R
c.163C>A
1 paper
NM_001257118.3
p.T54I
c.161C>T
1 paper
NM_001257118.3
p.K64E
c.190A>G
1 paper
NM_001257118.3
p.K53R
c.158A>G
2 papers
NM_001257118.3
p.A66V
c.197C>T
1 paper
NM_001257118.3
p.M51R
c.152T>G
1 paper
NM_001257118.3
p.A68P
c.202G>C
1 paper
NM_001257118.3
p.A48insFs
c.142_143ins44
3 papers
NM_001257118.3
p.R45C
c.133C>T
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