Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.K320K

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.K320K
c.960G>A
Surrounding Variants
2 papers
NM_001372051.1
p.K320delins
c.958_959delinsCT
1 paper
NM_001372051.1
p.I322F
c.964A>T
1 paper
NM_001372051.1
p.I323_Y324delFs
c.969_972del4
1 paper
NM_001372051.1
p.I323I
c.969C>T
1 paper
NM_001372051.1
p.Y324C
c.971A>G
2 papers
NM_001372051.1
p.G325S
c.973G>A
1 paper
NM_001372051.1
p.G325R
c.973G>C
5 papers
NM_001372051.1
p.G325A
c.974G>C
1 paper
NM_001372051.1
p.S316delFs
c.948delC
1 paper
NM_001372051.1
p.L315L
c.945C>G
1 paper
NM_001372051.1
p.L315P
c.944T>C
1 paper
NM_001372051.1
p.L315F
c.943C>T
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