Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.D185G

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.D185G
c.554A>G
Surrounding Variants
3 papers
NM_001257118.3
p.V184_D185insFs
c.552_553ins4
1 paper
NM_001257118.3
p.I186V
c.556A>G
1 paper
NM_001257118.3
p.I186I
c.558C>T
1 paper
NM_001257118.3
p.A182T
c.544G>A
1 paper
NM_001257118.3
p.T180I
c.539C>T
1 paper
NM_001257118.3
p.D174Y
c.520G>T
1 paper
NM_001257118.3
p.D174N
c.520G>A
1 paper
NM_001257118.3
p.E172E
c.516A>G
1 paper
NM_001257118.3
p.E172K
c.514G>A
1 paper
NM_001257118.3
p.S199T
c.596G>C
1 paper
NM_001257118.3
p.E171Q
c.511G>C
1 paper
NM_001257118.3
p.N170S
c.509A>G
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