CASP8 gene homepage

General information
Gene symbol CASP8
Gene name caspase 8, apoptosis-related cysteine peptidase
Chromosome 2
Chromosomal band q33-q34
Imprinted Unknown
Genomic reference LRG_34
Transcript reference NM_001228.4
Exon/intron information NM_001228.4 exon/intron table
Associated with diseases ACLC, cancer, liver, cancer, breast, familial, caspase-8 deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 21
Unique public DNA variants reported 20
Individuals with public variants 197
Hidden variants 2
Date created May 03, 2013
Date last updated March 23, 2020
Version CASP8:200323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001228.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 1509
Entrez Gene 841
PubMed articles CASP8
OMIM - Gene 601763
OMIM - Diseases ACLC (cancer, lung (adenocarcinoma))
cancer, liver (cancer, hepatocellular)
cancer, breast, familial
caspase-8 deficiency


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004384 2 transcript variant A NM_001228.4 NP_001219.2 21


Copyright & disclaimer
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