Varaico: Literature-Extracted Genetic Variants

Gene:CASP4
Variant:p.F330L

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
2 papers
NM_001225.4
p.F330L
c.988T>C
Surrounding Variants
2 papers
NM_001225.4
p.F330L
c.990C>G
2 papers
NM_001225.4
p.F330L
c.990C>A
1 paper
NM_001225.4
p.Q331K
c.991C>A
1 paper
NM_001225.4
p.H338R
c.1013A>G
1 paper
NM_001225.4
p.R344W
c.1030C>T
1 paper
NM_001225.4
p.D315Fs
c.945delinsTCFs
1 paper
NM_001225.4
p.H309Splc
c.925+9C>A
1 paper
NM_001225.4
p.D289A
c.866A>C
1 paper
NM_001225.4
p.L286L
c.858A>G
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
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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."