Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.T273S

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.T273S
c.818C>G
Surrounding Variants
2 papers
NM_001372051.1
p.T273N
c.818C>A
2 papers
NM_001372051.1
p.T273delins
c.818_819delinsTG
1 paper
NM_001372051.1
p.T273A
c.817A>G
2 papers
NM_001372051.1
p.T273delFs
c.819delC
1 paper
NM_001372051.1
p.T273del1
c.817_818delACC
1 paper
NM_001372051.1
p.F274V
c.820T>G
1 paper
NM_001372051.1
p.T272del1
c.814_815delACG
1 paper
NM_001372051.1
p.T271_T272del1
c.812_814delCCA
2 papers
NM_001372051.1
p.L270*
c.809T>A
2 papers
NM_001372051.1
p.E276D
c.828G>T
1 paper
NM_001372051.1
p.L277fs
c.829_830fs
1 paper
NM_001372051.1
p.L277fs
c.829_830fs
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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."