Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.Y421*

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.Y421*
c.1263C>A
Surrounding Variants
1 paper
NM_001372051.1
p.Y421*
c.1263C>G
1 paper
NM_001372051.1
p.Q423_C426del4
c.1267_1277del12
1 paper
NM_001372051.1
p.Q423P
c.1268A>C
1 paper
NM_001080125.2
p.Q482H
c.1446G>C
1 paper
NM_001080125.2
p.Q482H
c.1446G>T
1 paper
NM_001372051.1
p.T419I
c.1256C>T
1 paper
NM_001372051.1
p.L425F
c.1273C>T
1 paper
NM_001372051.1
p.E417G
c.1250A>G
1 paper
NM_001372051.1
p.C426F
c.1277G>T
1 paper
NM_001372051.1
p.P415delFs
c.1245delT
2 papers
NM_001372051.1
p.P415S
c.1243C>T
2 papers
NM_001372051.1
p.R430*
c.1288A>T
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