Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.L14insFs

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.L14insFs
c.40_41insT
Surrounding Variants
1 paper
NM_001372051.1
p.L14Q
c.41T>A
1 paper
NM_001372051.1
p.L14R
c.41T>G
2 papers
NM_001372051.1
p.Q13*
c.37C>T
1 paper
NM_001372051.1
p.D15insFs
c.43_44insT
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
1 paper
NM_001372051.1
p.D15E
c.45C>A
2 papers
NM_001372051.1
p.D15_S16insFs
c.45_46ins11
1 paper
NM_001372051.1
p.S16_L19insFs
c.46_56dup11
1 paper
NM_001372051.1
p.D15_S16insFs
c.45_46insT
1 paper
NM_001372051.1
p.D15E
c.45C>G
1 paper
NM_001372051.1
p.E12K
c.34G>A
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