Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.L74F

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.L74F
c.222G>C
Surrounding Variants
1 paper
NM_001372051.1
p.L74F
c.222G>T
1 paper
NM_001372051.1
p.L74L
c.220T>C
2 papers
NM_001372051.1
p.D73A
c.218A>C
1 paper
NM_001372051.1
p.D73N
c.217G>A
1 paper
NM_001372051.1
p.I76insFs
c.227_228insAG
1 paper
NM_001372051.1
p.T77fs
c.229_230fs
1 paper
NM_001372051.1
p.R71T
c.212G>C
1 paper
NM_001372051.1
p.R71G
c.211A>G
1 paper
NM_001372051.1
p.Y78C
c.233A>G
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.N70fs
c.208_209fs
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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."