Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.N205I

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.N205I
c.614A>T
Surrounding Variants
2 papers
NM_001257118.3
p.N205fs
c.613_614fs
1 paper
NM_001257118.3
p.N205delFs
c.614delT
1 paper
NM_001257118.3
p.N205D
c.613A>G
1 paper
NM_001257118.3
p.N205delFs
c.615delA
1 paper
NM_001257118.3
p.K204N
c.612A>T
1 paper
NM_001257118.3
p.D201V
c.602A>T
1 paper
NM_001257118.3
p.S199T
c.596G>C
1 paper
NM_001257118.3
p.S209_D210Splc
c.627+38C>T
1 paper
NM_001257118.3
p.I186I
c.558C>T
1 paper
NM_001257118.3
p.I186V
c.556A>G
1 paper
NM_001257118.3
p.D185G
c.554A>G
3 papers
NM_001257118.3
p.V184_D185insFs
c.552_553ins4
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