Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.E311K

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
6 papers
NM_001257118.3
p.E311K
c.931G>A
Surrounding Variants
1 paper
NM_001257118.3
p.E312*
c.934G>T
1 paper
NM_001257118.3
p.L307S
c.920T>C
1 paper
NM_001257118.3
p.D315N
c.943G>A
1 paper
NM_001257118.3
p.G300_D315delFs
c.899_944del46
3 papers
NM_001257118.3
p.D316N
c.946G>A
1 paper
NM_001257118.3
p.L305P
c.914T>C
3 papers
NM_001257118.3
p.L305L
c.913C>T
1 paper
NM_001257118.3
p.G303E
c.908G>A
1 paper
NM_001257118.3
p.G303R
c.907G>A
1 paper
NM_001257118.3
p.D315_I318del4
c.943_953del12
7 papers
NM_001257118.3
p.K319R
c.956A>G
1 paper
NM_001257118.3
p.V301I
c.901G>A
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