Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.D259E

CASP8

817 papers

RefSeq Summary

This gene encodes 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. Caspases exist as i...

Pfam Domains

DEDaa 3–84UCSCDeath effector domain
DEDaa 101–181UCSCDeath effector domain
Peptidase_C14aa 233–475UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 8

HGNC Alias Symbols

MCH5; MACH; FLICE; Casp-8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001372051.1
p.D259E
c.777C>G
Surrounding Variants
1 paper
NM_001372051.1
p.R260S
c.780G>C
1 paper
NM_001372051.1
p.N261I
c.782A>T
2 papers
NM_001372051.1
p.I257I
c.771T>C
1 paper
NM_001372051.1
p.I257M
c.771T>G
1 paper
NM_001372051.1
p.N261K
c.783T>G
1 paper
NM_001372051.1
p.I257V
c.769A>G
1 paper
NM_001372051.1
p.S256R
c.768C>G
1 paper
NM_001372051.1
p.T263A
c.787A>G
1 paper
NM_001372051.1
p.T263S
c.787A>T
1 paper
NM_001372051.1
p.T263I
c.788C>T
1 paper
NM_001372051.1
p.H264insFs
c.790dupC
4 papers
NM_001372051.1
p.T263T
c.789A>G
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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."