Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.L348F

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.L348F
c.1042C>T
Surrounding Variants
1 paper
NM_001372051.1
p.S347F
c.1040C>T
1 paper
NM_001372051.1
p.P346P
c.1038T>A
1 paper
NM_001372051.1
p.P346del1
c.1036_1037delCCT
1 paper
NM_001372051.1
p.G350A
c.1049G>C
1 paper
NM_001372051.1
p.C345Y
c.1034G>A
1 paper
NM_001372051.1
p.L343delFs
c.1029delG
1 paper
NM_001372051.1
p.K353*
c.1057A>T
1 paper
NM_001372051.1
p.G342D
c.1025G>A
1 paper
NM_001372051.1
p.T341ins2
c.1022_1023ins6
1 paper
NM_001372051.1
p.T341insFs
c.1022_1023insC
1 paper
NM_001372051.1
p.F340F
c.1020C>T
1 paper
NM_001372051.1
p.F356fs
c.1066_1067fs
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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."