Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.E85*

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.E85*
c.253G>T
Surrounding Variants
1 paper
NM_001372051.1
p.E85A
c.254A>C
1 paper
NM_001372051.1
p.E84A
c.251A>C
1 paper
NM_001372051.1
p.E84G
c.251A>G
2 papers
NM_001372051.1
p.E84V
c.251A>T
1 paper
NM_001372051.1
p.E85D
c.255G>C
1 paper
NM_001372051.1
p.E85D
c.255G>T
1 paper
NM_001372051.1
p.M86delFs
c.256delA
2 papers
NM_001372051.1
p.M86_E87delFs
c.256_260del5
2 papers
NM_001372051.1
p.M86_E87del2
c.256_260del6
1 paper
NM_001372051.1
p.E84Q
c.250G>C
1 paper
NM_001372051.1
p.K83N
c.249G>C
1 paper
NM_001372051.1
p.K83N
c.249G>T
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