Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.R47*

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.R47*
c.139A>T
Surrounding Variants
2 papers
NM_001372051.1
p.L48V
c.142C>G
1 paper
NM_001372051.1
p.F45L
c.135C>G
1 paper
NM_001372051.1
p.L48H
c.143T>A
3 papers
NM_001372051.1
p.Q49*
c.145C>T
2 papers
NM_001372051.1
p.F45_Q46ins11
c.133_137ins33
1 paper
NM_001372051.1
p.Q49L
c.146A>T
1 paper
NM_001372051.1
p.F45_Q46Fs
c.134_136delinsCCFs
1 paper
NM_001372051.1
p.E50_R52del3
c.148_155del9
1 paper
NM_001372051.1
p.K51delFs
c.152delA
1 paper
NM_001372051.1
p.M43I
c.129G>A
1 paper
NM_001372051.1
p.M43T
c.128T>C
1 paper
NM_001372051.1
p.M43V
c.127A>G
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