Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.V107V

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.V107V
c.321A>C
Surrounding Variants
1 paper
NM_001257118.3
p.V107E
c.320T>A
1 paper
NM_001257118.3
p.Q105_G106delFs
c.315_318del4
1 paper
NM_001257118.3
p.G106*
c.316G>T
2 papers
NM_001257118.3
p.G106R
c.316G>C
2 papers
NM_001257118.3
p.G106R
c.316G>A
1 paper
NM_001257118.3
p.Q105H
c.315A>T
1 paper
NM_001257118.3
p.D103G
c.308A>G
1 paper
NM_001257118.3
p.D103A
c.308A>C
1 paper
NM_001257118.3
p.D103N
c.307G>A
1 paper
NM_001257118.3
p.A113Splc
c.337+2T>C
1 paper
NM_001257118.3
p.M101I
c.303G>C
1 paper
NM_001257118.3
p.N100S
c.299A>G
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