Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.V279E

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.V279E
c.836T>A
Surrounding Variants
1 paper
NM_001257118.3
p.V279A
c.836T>C
3 papers
NM_001257118.3
p.V279M
c.835G>A
1 paper
NM_001257118.3
p.K278N
c.834G>T
1 paper
NM_001257118.3
p.K278N
c.834G>C
1 paper
NM_001257118.3
p.P277R
c.830C>G
1 paper
NM_001257118.3
p.Q283L
c.848A>T
1 paper
NM_001257118.3
p.C285G
c.853T>G
1 paper
NM_001257118.3
p.L273W
c.818T>G
1 paper
NM_001257118.3
p.G287S
c.859G>A
1 paper
NM_001257118.3
p.G287A
c.860G>C
1 paper
NM_001257118.3
p.P271S
c.811C>T
5 papers
NM_001257118.3
p.T267I
c.800C>T
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