Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.A260_I261insFs

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.A260_I261insFs
c.780_781insA
Surrounding Variants
1 paper
NM_001257118.3
p.F262F
c.786T>C
5 papers
NM_001257118.3
p.N263S
c.788A>G
5 papers
NM_001257118.3
p.L265S
c.794T>C
1 paper
NM_001257118.3
p.N266I
c.797A>T
1 paper
NM_001257118.3
p.N266delFs
c.797delT
2 papers
NM_001257118.3
p.L256L
c.766C>T
5 papers
NM_001257118.3
p.T267I
c.800C>T
1 paper
NM_001257118.3
p.D254D
c.762T>C
1 paper
NM_001257118.3
p.D254Y
c.760G>T
1 paper
NM_001257118.3
p.P271S
c.811C>T
4 papers
NM_001257118.3
p.E250Q
c.748G>C
3 papers
NM_001257118.3
p.E250K
c.748G>A
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