Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.L90F

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.L90F
c.268C>T
Surrounding Variants
1 paper
NM_001372051.1
p.E89G
c.266A>G
2 papers
NM_001372051.1
p.Q91*
c.271C>T
2 papers
NM_001372051.1
p.E89*
c.265G>T
1 paper
NM_001372051.1
p.E87G
c.260A>G
1 paper
NM_001372051.1
p.T92T
c.276A>G
2 papers
NM_001372051.1
p.T92_P93delins
c.276_277delinsCT
2 papers
NM_001372051.1
p.P93S
c.277C>T
1 paper
NM_001372051.1
p.E87fs
c.259_260fs
1 paper
NM_001372051.1
p.P93P
c.279A>T
1 paper
NM_001372051.1
p.M86K
c.257T>A
1 paper
NM_001372051.1
p.G94R
c.280G>C
1 paper
NM_001372051.1
p.E85D
c.255G>C
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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."