Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.G11R

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.G11R
c.31G>A
Surrounding Variants
2 papers
NM_001372051.1
p.G11R
c.31G>C
2 papers
NM_001372051.1
p.G11E
c.32G>A
1 paper
NM_001372051.1
p.I10I
c.30T>A
1 paper
NM_001372051.1
p.E12_Q13del0
c.34_39del6
3 papers
NM_001372051.1
p.I10T
c.29T>C
1 paper
NM_001372051.1
p.E12K
c.34G>A
1 paper
NM_001372051.1
p.E12fs
c.34_35fs
2 papers
NM_001372051.1
p.E12A
c.35A>C
2 papers
NM_001080125.2
p.E71G
c.212A>G
NM_001372051.1
p.E12G
c.35A>G
2 papers
NM_001372051.1
p.Q13*
c.37C>T
1 paper
NM_001372051.1
p.D9N
c.25G>A
1 paper
NM_001372051.1
p.D9Y
c.25G>T
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