Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.Y8D

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.Y8D
c.22T>G
Surrounding Variants
1 paper
NM_001372051.1
p.Y8_D9delFs
c.22_26del5
3 papers
NM_001372051.1
p.L7P
c.20T>C
1 paper
NM_001372051.1
p.L7R
c.20T>G
1 paper
NM_001372051.1
p.L7I
c.19C>A
1 paper
NM_001372051.1
p.L7V
c.19C>G
1 paper
NM_001372051.1
p.D9N
c.25G>A
1 paper
NM_001372051.1
p.D9Y
c.25G>T
1 paper
NM_001372051.1
p.D9fs
c.25_26fs
1 paper
NM_001372051.1
p.N6T
c.17A>C
2 papers
NM_001372051.1
p.N6I
c.17A>T
1 paper
NM_001372051.1
p.N6D
c.16A>G
3 papers
NM_001372051.1
p.I10T
c.29T>C
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