Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.M53I

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.M53I
c.159G>C
Surrounding Variants
1 paper
NM_001372051.1
p.M53I
c.159G>A
1 paper
NM_001372051.1
p.M53I
c.159G>T
1 paper
NM_001372051.1
p.R52T
c.155G>C
3 papers
NM_001372051.1
p.R52I
c.155G>T
2 papers
NM_001372051.1
p.E55*
c.163G>T
1 paper
NM_001372051.1
p.R52fs
c.154_155fs
1 paper
NM_001372051.1
p.E55G
c.164A>G
1 paper
NM_001372051.1
p.E55V
c.164A>T
1 paper
NM_001372051.1
p.E56K
c.166G>A
1 paper
NM_001372051.1
p.E56_S57ins11
c.166_170ins33
1 paper
NM_001372051.1
p.K51fs
c.151_152fs
1 paper
NM_001372051.1
p.K51delFs
c.152delA
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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."