Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.E276D

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
2 papers
NM_001372051.1
p.E276D
c.828G>T
Surrounding Variants
1 paper
NM_001372051.1
p.L277fs
c.829_830fs
1 paper
NM_001372051.1
p.L277fs
c.829_830fs
1 paper
NM_001372051.1
p.L277R
c.830T>G
1 paper
NM_001372051.1
p.H278Y
c.832C>T
2 papers
NM_001372051.1
p.H278P
c.833A>C
2 papers
NM_001372051.1
p.F279L
c.835T>C
1 paper
NM_001372051.1
p.F274V
c.820T>G
2 papers
NM_001372051.1
p.F279_E280delins
c.837_839delinsCAG
2 papers
NM_001372051.1
p.T273N
c.818C>A
2 papers
NM_001372051.1
p.T273S
c.818C>G
2 papers
NM_001372051.1
p.T273delins
c.818_819delinsTG
1 paper
NM_001372051.1
p.T273A
c.817A>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."