Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.F136L

CASP9

385 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

CARDaa 6–92UCSCCaspase recruitment domain
Peptidase_C14aa 160–412UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 9

HGNC Alias Symbols

MCH6; ICE-LAP6; APAF-3; PPP1R56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001229.5
p.F136L
c.408T>A
Surrounding Variants
2 papers
NM_001229.5
p.F136L
c.408T>G
3 papers
NM_001229.5
p.F136F
c.408T>C
2 papers
NM_001229.5
p.F136L
c.406T>C
5 papers
NM_001229.5
p.D138G
c.413A>G
1 paper
NM_001229.5
p.G132V
c.395G>T
1 paper
NM_001229.5
p.I131F
c.391A>T
1 paper
NM_001229.5
p.D130A
c.389A>C
1 paper
NM_001229.5
p.P128P
c.384A>T
1 paper
NM_001229.5
p.G140Splc
c.418+16G>A
1 paper
NM_001229.5
p.T125I
c.374C>T
1 paper
NM_001229.5
p.E124E
c.372A>G
1 paper
NM_001229.5
p.E124A
c.371A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."