Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.M228fs

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.M228fs
c.682_683fs
Surrounding Variants
1 paper
NM_001372051.1
p.K229insFs
c.685dupA
1 paper
NM_001372051.1
p.Q227_M228insAG
c.679_683ins6
1 paper
NM_001372051.1
p.S230fs
c.688_689fs
1 paper
NM_001372051.1
p.S230R
c.688A>C
1 paper
NM_001372051.1
p.S230R
c.690C>A
1 paper
NM_001372051.1
p.S230R
c.690C>G
1 paper
NM_001372051.1
p.S230S
c.690C>T
7 papers
NM_001372051.1
p.K224E
c.670A>G
3 papers
NM_001372051.1
p.D223A
c.668A>C
10 papers
NM_001372051.1
p.R233W
c.697C>T
1 paper
NM_001372051.1
p.R233delFs
c.698delG
7 papers
NM_001080125.2
p.R292Q
c.875G>A
NM_001372051.1
p.R233Q
c.698G>A
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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."