Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.S99F

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
5 papers
NM_001372051.1
p.S99F
c.296C>T
Surrounding Variants
1 paper
NM_001372051.1
p.S99Y
c.296C>A
1 paper
NM_001372051.1
p.S99insFs
c.295_296insC
2 papers
NM_001372051.1
p.A100T
c.298G>A
2 papers
NM_001372051.1
p.A100D
c.299C>A
1 paper
NM_001372051.1
p.A100G
c.299C>G
1 paper
NM_001372051.1
p.Y101delFs
c.301delT
1 paper
NM_001372051.1
p.Y101fs
c.301_302fs
2 papers
NM_001372051.1
p.Q97P
c.290A>C
1 paper
NM_001372051.1
p.Y101C
c.302A>G
1 paper
NM_001372051.1
p.Y101*
c.303C>A
1 paper
NM_001372051.1
p.Y101*
c.303C>G
3 papers
NM_001372051.1
p.Q97*
c.289C>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."