Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.M403delFs

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.M403delFs
c.1209delG
Surrounding Variants
1 paper
NM_001372051.1
p.A404_T405insAG
c.1210_1214ins6
1 paper
NM_001372051.1
p.A404V
c.1211C>T
1 paper
NM_001372051.1
p.G402R
c.1204G>A
1 paper
NM_001372051.1
p.G402W
c.1204G>T
1 paper
NM_001372051.1
p.T405T
c.1215T>C
1 paper
NM_001372051.1
p.V406V
c.1218G>A
1 paper
NM_001372051.1
p.D398G
c.1193A>G
9 papers
NM_001372051.1
p.C409delFs
c.1225_1226delTG
1 paper
NM_001372051.1
p.D398N
c.1192G>A
1 paper
NM_001372051.1
p.D398H
c.1192G>C
1 paper
NM_001372051.1
p.A397V
c.1190C>T
1 paper
NM_001372051.1
p.V410I
c.1228G>A
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."