Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.N70fs

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.N70fs
c.208_209fs
Surrounding Variants
1 paper
NM_001372051.1
p.I69T
c.206T>C
1 paper
NM_001372051.1
p.R71G
c.211A>G
1 paper
NM_001372051.1
p.R71T
c.212G>C
8 papers
NM_001372051.1
p.R68Q
c.203G>A
2 papers
NM_001372051.1
p.R68R
c.202C>A
10 papers
NM_001372051.1
p.R68*
c.202C>T
1 paper
NM_001372051.1
p.D73N
c.217G>A
1 paper
NM_001372051.1
p.F67V
c.199T>G
2 papers
NM_001372051.1
p.D73A
c.218A>C
1 paper
NM_001372051.1
p.F67_R68delFs
c.199_203del5
1 paper
NM_001372051.1
p.L66P
c.197T>C
1 paper
NM_001372051.1
p.L66V
c.196C>G
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