NOTCH2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @zhangGeneticHeterogeneityDiffuse2013, @beaLandscapeSomaticMutations2013, @rossiCodingGenomeSplenic2012,
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@leeGainoffunctionMutationsCopy2009]
Relevance tier by entity
include:tables/table1_NOTCH2.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
MCL
DLBCL
include:tables/DLBCL_NOTCH2.md
Mutation pattern and selective pressure estimates
NOTCH2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 120458147 | G>A | R2400* |
include:tables/browser_NOTCH2.md
Expression
include:tables/mermaid_NOTCH2.md