Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.F3L

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.F3L
c.9C>G
Surrounding Variants
1 paper
NM_001372051.1
p.F3L
c.9C>A
1 paper
NM_001372051.1
p.S4_R5delFs
c.12_13delCA
1 paper
NM_001372051.1
p.F3L
c.7T>C
1 paper
NM_001372051.1
p.R5R
c.13A>C
1 paper
NM_001372051.1
p.R5K
c.14G>A
1 paper
NM_001372051.1
p.R5_I10Fs
c.14_28delinsCTFs
1 paper
NM_001372051.1
p.M1_D2insFs
c.3_4insA
2 papers
NM_001372051.1
p.M1I
c.3G>T
1 paper
NM_001372051.1
p.N6D
c.16A>G
10 papers
NM_001372051.1
p.M1T
c.2T>C
1 paper
NM_001372051.1
p.M1insFs
c.2_3ins11
1 paper
NM_001372051.1
p.M1insFs
c.1_2ins46
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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."