Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.L42S

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.L42S
c.125T>C
Surrounding Variants
1 paper
NM_001372051.1
p.L42L
c.126G>A
1 paper
NM_001372051.1
p.L42F
c.126G>C
1 paper
NM_001372051.1
p.L42F
c.126G>T
1 paper
NM_001372051.1
p.M43V
c.127A>G
1 paper
NM_001372051.1
p.M43L
c.127A>T
1 paper
NM_001372051.1
p.A41A
c.123C>G
1 paper
NM_001372051.1
p.A41D
c.122C>A
1 paper
NM_001372051.1
p.M43T
c.128T>C
1 paper
NM_001372051.1
p.M43I
c.129G>A
1 paper
NM_001372051.1
p.F45_Q46Fs
c.134_136delinsCCFs
1 paper
NM_001372051.1
p.D40insFs
c.118_119insC
1 paper
NM_001372051.1
p.D40fs
c.118_119fs
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