Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.E19Q

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.E19Q
c.55G>C
Surrounding Variants
1 paper
NM_001257118.3
p.E19A
c.56A>C
1 paper
NM_001257118.3
p.M17I
c.51G>C
1 paper
NM_001257118.3
p.T21I
c.62C>T
1 paper
NM_001257118.3
p.S16fs
c.46_47fs
1 paper
NM_001257118.3
p.R15H
c.44G>A
1 paper
NM_001257118.3
p.F13C
c.38T>G
1 paper
NM_001257118.3
p.F13S
c.38T>C
1 paper
NM_001257118.3
p.F13V
c.37T>G
1 paper
NM_001257118.3
p.L25S
c.74T>C
1 paper
NM_001257118.3
p.K11E
c.31A>G
2 papers
NM_001257118.3
p.D27G
c.80A>G
1 paper
NM_001257118.3
p.E28K
c.82G>A
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