Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.Y78C

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.Y78C
c.233A>G
Surrounding Variants
1 paper
NM_001372051.1
p.Y78*
c.234C>A
1 paper
NM_001372051.1
p.Y78*
c.234C>G
1 paper
NM_001372051.1
p.T77fs
c.229_230fs
1 paper
NM_001372051.1
p.I76insFs
c.227_228insAG
1 paper
NM_001372051.1
p.T81N
c.242C>A
1 paper
NM_001372051.1
p.T81S
c.242C>G
1 paper
NM_001372051.1
p.T81I
c.242C>T
1 paper
NM_001372051.1
p.R82G
c.244A>G
1 paper
NM_001372051.1
p.L74F
c.222G>C
1 paper
NM_001372051.1
p.L74F
c.222G>T
1 paper
NM_001372051.1
p.R82T
c.245G>C
1 paper
NM_001372051.1
p.L74L
c.220T>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."