Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.K51fs

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.K51fs
c.151_152fs
Surrounding Variants
1 paper
NM_001372051.1
p.R52fs
c.154_155fs
1 paper
NM_001372051.1
p.K51delFs
c.152delA
1 paper
NM_001372051.1
p.R52T
c.155G>C
3 papers
NM_001372051.1
p.R52I
c.155G>T
1 paper
NM_001372051.1
p.E50_R52del3
c.148_155del9
1 paper
NM_001372051.1
p.Q49L
c.146A>T
3 papers
NM_001372051.1
p.Q49*
c.145C>T
1 paper
NM_001372051.1
p.M53I
c.159G>A
1 paper
NM_001372051.1
p.M53I
c.159G>C
1 paper
NM_001372051.1
p.M53I
c.159G>T
1 paper
NM_001372051.1
p.L48H
c.143T>A
2 papers
NM_001372051.1
p.L48V
c.142C>G
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."