Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.D303N

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
2 papers
NM_001372051.1
p.D303N
c.907G>A
Surrounding Variants
2 papers
NM_001372051.1
p.D303G
c.908A>G
1 paper
NM_001372051.1
p.D303V
c.908A>T
1 paper
NM_001372051.1
p.M302R
c.905T>G
1 paper
NM_001372051.1
p.S305N
c.914G>A
1 paper
NM_001372051.1
p.Q300_L315delFs
c.899_944del46
1 paper
NM_001372051.1
p.N306K
c.918C>G
4 papers
NM_001372051.1
p.I298V
c.892A>G
1 paper
NM_001372051.1
p.D308G
c.923A>G
1 paper
NM_001372051.1
p.I298del1
c.892_893delATC
1 paper
NM_001372051.1
p.K297R
c.890A>G
1 paper
NM_001372051.1
p.D308D
c.924C>T
1 paper
NM_001372051.1
p.L296W
c.887T>G
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