Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.V233G

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.V233G
c.698T>G
Surrounding Variants
1 paper
NM_001257118.3
p.V233E
c.698T>A
1 paper
NM_001257118.3
p.D228N
c.682G>A
9 papers
NM_001257118.3
p.R240Q
c.719G>A
1 paper
NM_001257118.3
p.K225*
c.673A>T
1 paper
NM_001257118.3
p.C244_G245insFs
c.732_733insG
1 paper
NM_001257118.3
p.R221insFs
c.662_663insG
1 paper
NM_001257118.3
p.G245V
c.734G>T
6 papers
NM_001257118.3
p.R221C
c.661C>T
1 paper
NM_001257118.3
p.S249P
c.745T>C
1 paper
NM_001257118.3
p.S249C
c.746C>G
1 paper
NM_001257118.3
p.A217T
c.649G>A
4 papers
NM_001257118.3
p.E250Q
c.748G>C
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