Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.R430I

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.R430I
c.1289G>T
Surrounding Variants
1 paper
NM_001372051.1
p.R430K
c.1289G>A
2 papers
NM_001372051.1
p.R430*
c.1288A>T
4 papers
NM_001372051.1
p.R432*
c.1294C>T
1 paper
NM_001372051.1
p.C426F
c.1277G>T
1 paper
NM_001372051.1
p.R435insFs
c.1303dupC
6 papers
NM_001372051.1
p.R435*
c.1303C>T
1 paper
NM_001372051.1
p.R435Q
c.1304G>A
1 paper
NM_001372051.1
p.L425F
c.1273C>T
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.Q423P
c.1268A>C
1 paper
NM_001372051.1
p.Q423_C426del4
c.1267_1277del12
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."