Varaico: Literature-Extracted Genetic Variants

Gene:CASP1

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
1–12 of 218 variants
10 papers
NM_001257118.3
p.S95Y
c.284C>A
9 papers
NM_001257118.3
p.R240Q
c.719G>A
7 papers
NM_001257118.3
p.K319R
c.956A>G
7 papers
NM_001257118.3
p.A329T
c.985G>A
6 papers
NM_001257118.3
p.Q31Q
c.93G>A
6 papers
NM_001257118.3
p.R221C
c.661C>T
6 papers
NM_001257118.3
p.E311K
c.931G>A
5 papers
NM_001257118.3
p.N263S
c.788A>G
5 papers
NM_001257118.3
p.L265S
c.794T>C
5 papers
NM_001257118.3
p.T267I
c.800C>T
4 papers
NM_001257118.3
p.R161H
c.482G>A
4 papers
NM_001257118.3
p.E250Q
c.748G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."