Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.Q366H

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.Q366H
c.1098G>T
Surrounding Variants
1 paper
NM_001372051.1
p.Q366H
c.1098G>C
1 paper
NM_001372051.1
p.Q366*
c.1096C>T
1 paper
NM_001372051.1
p.Y365*
c.1095C>A
1 paper
NM_001372051.1
p.G368D
c.1103G>A
1 paper
NM_001372051.1
p.I369V
c.1105A>G
1 paper
NM_001372051.1
p.P370H
c.1109C>A
1 paper
NM_001372051.1
p.D363_N364del2
c.1087_1091del6
1 paper
NM_001372051.1
p.G362insFs
c.1085_1086insT
1 paper
NM_001372051.1
p.V371F
c.1111G>T
1 paper
NM_001372051.1
p.Q361*
c.1081C>T
2 papers
NM_001372051.1
p.T373A
c.1117A>G
23 papers
NM_001372051.1
p.C360S
c.1079G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."