Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.R248Q

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
5 papers
NM_001372051.1
p.R248Q
c.743G>A
Surrounding Variants
2 papers
NM_001372051.1
p.R248L
c.743G>T
1 paper
NM_001372051.1
p.R248G
c.742C>G
15 papers
NM_001372051.1
p.R248W
c.742C>T
NM_001080125.2
p.R307W
c.919C>T
NM_001080124.2
p.R233W
c.697C>T
NM_001228.5
p.R265W
c.793C>T
2 papers
NM_001372051.1
p.A247E
c.740C>A
1 paper
NM_001372051.1
p.K246*
c.736A>T
1 paper
NM_001372051.1
p.V251M
c.751G>A
2 papers
NM_001372051.1
p.P252L
c.755C>T
1 paper
NM_001372051.1
p.F244fs
c.730_731fs
2 papers
NM_001372051.1
p.K253delins
c.757_758delinsGG
1 paper
NM_001372051.1
p.K253R
c.758A>G
2 papers
NM_001372051.1
p.H255R
c.764A>G
1 paper
NM_001372051.1
p.N241S
c.722A>G
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