Varaico: Literature-Extracted Genetic Variants

Gene:CASP4
Variant:p.K19N

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.K19N
c.57A>C
Surrounding Variants
1 paper
NM_001225.4
p.K19N
c.57A>T
1 paper
NM_001225.4
p.K19E
c.55A>G
1 paper
NM_001225.4
p.L22F
c.64C>T
1 paper
NM_001225.4
p.N36Y
c.106A>T
1 paper
NM_001225.4
p.E3Splc
c.8-1G>A
1 paper
NM_001225.4
p.W37C
c.111G>C
1 paper
NM_001225.4
p.E40E
c.120G>A
1 paper
NM_001225.4
p.E41K
c.121G>A
1 paper
NM_001225.4
p.E41A
c.122A>C
1 paper
NM_001225.4
p.K43fs
c.127_128fs
1 paper
NM_001225.4
p.D47N
c.139G>A
1 paper
NM_001225.4
p.D59A
c.176A>C
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