Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.S386*

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
3 papers
NM_001372051.1
p.S386*
c.1157C>G
Surrounding Variants
3 papers
NM_001372051.1
p.S386*
c.1157C>A
1 paper
NM_001372051.1
p.S387_P388insC
c.1159_1163ins3
1 paper
NM_001372051.1
p.S387*
c.1160C>A
1 paper
NM_001372051.1
p.S387*
c.1160C>G
1 paper
NM_001372051.1
p.P388S
c.1162C>T
1 paper
NM_001372051.1
p.D384A
c.1151A>C
1 paper
NM_001372051.1
p.R391S
c.1173A>T
1 paper
NM_001372051.1
p.L381fs
c.1141_1142fs
1 paper
NM_001372051.1
p.L381insFs
c.1142dupT
5 papers
NM_001372051.1
p.Y380F
c.1139A>T
1 paper
NM_001372051.1
p.I393_L401del9
c.1177_1202del27
1 paper
NM_001372051.1
p.P379L
c.1136C>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."