Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.R33S

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.R33S
c.99G>C
Surrounding Variants
1 paper
NM_001372051.1
p.R33S
c.99G>T
1 paper
NM_001372051.1
p.K34_K39del6
c.100_116del18
1 paper
NM_001372051.1
p.E36delFs
c.106delG
2 papers
NM_001372051.1
p.P31P
c.93G>A
1 paper
NM_001372051.1
p.E36K
c.106G>A
2 papers
NM_001372051.1
p.E36*
c.106G>T
1 paper
NM_001372051.1
p.E36fs
c.106_107fs
1 paper
NM_001372051.1
p.E36V
c.107A>T
1 paper
NM_001372051.1
p.P31S
c.91C>T
1 paper
NM_001372051.1
p.E36D
c.108A>C
1 paper
NM_001372051.1
p.E36D
c.108A>T
1 paper
NM_001372051.1
p.I30M
c.90T>G
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