Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.D286H

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.D286H
c.856G>C
Surrounding Variants
1 paper
NM_001372051.1
p.D285A
c.854A>C
15 papers
NM_001228.5
p.D302H
c.904G>C
NM_001372051.1
p.D285H
c.853G>C
2 papers
NM_001372051.1
p.D285fs
c.853_854fs
2 papers
NM_001372051.1
p.D285delFs
c.853delG
1 paper
NM_001372051.1
p.H284R
c.851A>G
1 paper
NM_001372051.1
p.T288_V289insC
c.862_866ins3
1 paper
NM_001372051.1
p.P283P
c.849C>A
1 paper
NM_001372051.1
p.T288K
c.863C>A
1 paper
NM_001372051.1
p.T288I
c.863C>T
1 paper
NM_001372051.1
p.E290*
c.868G>T
1 paper
NM_001372051.1
p.E290insFs
c.869_870insT
1 paper
NM_001372051.1
p.I292N
c.875T>A
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