Varaico: Literature-Extracted Genetic Variants

Gene:CASP8

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
1–12 of 690 variants
23 papers
NM_001372051.1
p.C360S
c.1078T>A
23 papers
NM_001372051.1
p.C360S
c.1079G>C
10 papers
NM_001372051.1
p.M1T
c.2T>C
10 papers
NM_001372051.1
p.R68*
c.202C>T
10 papers
NM_001372051.1
p.R233W
c.697C>T
10 papers
NM_001372051.1
p.R248W
c.742C>T
9 papers
NM_001372051.1
p.I357V
c.1069A>G
9 papers
NM_001372051.1
p.C409delFs
c.1225_1226delTG
8 papers
NM_001372051.1
p.R68Q
c.203G>A
8 papers
NM_001372051.1
p.D285H
c.853G>C
7 papers
NM_001372051.1
p.K224E
c.670A>G
7 papers
NM_001372051.1
p.R233Q
c.698G>A
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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."