Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.Y334*

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.Y334*
c.1002T>A
Surrounding Variants
1 paper
NM_001372051.1
p.Y334*
c.1002T>G
1 paper
NM_001228.5
p.E352insFs
c.1054dupG
1 paper
NM_001372051.1
p.Y334C
c.1001A>G
1 paper
NM_001372051.1
p.E335Fs
c.1003delinsGAFs
1 paper
NM_001372051.1
p.Y334insFs
c.1001_1002insA
2 papers
NM_001372051.1
p.I333M
c.999C>G
1 paper
NM_001372051.1
p.L336L
c.1006C>T
1 paper
NM_001372051.1
p.L336delFs
c.1008delG
1 paper
NM_001372051.1
p.P332P
c.996C>T
1 paper
NM_001372051.1
p.L336L
c.1008G>T
1 paper
NM_001372051.1
p.T337delFs
c.1009delA
2 papers
NM_001372051.1
p.T337S
c.1009A>T
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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."