Varaico: Literature-Extracted Genetic Variants

Gene:CASP4
Variant:p.L286L

CASP4

91 papers

RefSeq Summary

This gene encodes a protein that 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. C...

Pfam Domains

CARDaa 3–86UCSCCaspase recruitment domain
CARDaa 3–86UCSCCaspase recruitment domain
Peptidase_C14aa 135–372UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 4

HGNC Alias Symbols

ICE(rel)II; ICH-2; TX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001225.4
p.L286L
c.858A>G
Surrounding Variants
1 paper
NM_001225.4
p.D289A
c.866A>C
1 paper
NM_001225.4
p.Q281*
c.841C>T
1 paper
NM_001225.4
p.S274P
c.820T>C
1 paper
NM_001225.4
p.D270A
c.809A>C
1 paper
NM_001225.4
p.H309Splc
c.925+9C>A
1 paper
NM_001225.4
p.C258S
c.773G>C
1 paper
NM_001225.4
p.C258S
c.772T>A
1 paper
NM_001225.4
p.V255F
c.763G>T
1 paper
NM_001225.4
p.H221Y
c.661C>T
1 paper
NM_001225.4
p.G218R
c.652G>C
1 paper
NM_001225.4
p.G218R
c.652G>A
1 paper
NM_001225.4
p.G215R
c.643G>C
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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."