Varaico: Literature-Extracted Genetic Variants

Gene:CASP4
Variant:p.E93K

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.E93K
c.277G>A
Surrounding Variants
2 papers
NM_001225.4
p.E98E
c.294G>A
1 paper
NM_001225.4
p.D104A
c.311A>C
1 paper
NM_001225.4
p.R116I
c.347G>T
1 paper
NM_001225.4
p.R136H
c.407G>A
1 paper
NM_001225.4
p.P151S
c.451C>T
1 paper
NM_001225.4
p.P151L
c.452C>T
1 paper
NM_001225.4
p.S172T
c.515G>C
1 paper
NM_001225.4
p.D174V
c.521A>T
1 paper
NM_001225.4
p.T180I
c.539C>T
3 papers
NM_001225.4
p.L188Q
c.563T>A
1 paper
NM_001225.4
p.K198Q
c.592A>C
1 paper
NM_001225.4
p.F204L
c.612C>G
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