RHOA - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @chapuyMolecularSubtypesDiffuse2018, @zhangGeneticHeterogeneityDiffuse2013, @richterRecurrentMutationID32012, @reddyGeneticFunctionalDrivers2017,
Experimental Evidence
Driver mutations affecting this gene in DLBCL/BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@ohayreInactivatingMutationsGNA132016]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
BL
Mutation pattern and selective pressure estimates
RHOA Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr3 | 49413010 | G>A | R5W |
| chr3 | 49413009 | C>T | R5Q |
| chr3 | 49412923 | A>C | Y34D |
| chr3 | 49412922 | T>A | Y34F |
| chr3 | 49412899 | A>G | Y42H |
| chr3 | 49412898 | T>G | Y42S |
| chr3 | 49412898 | T>C | Y42C |
include:tables/browser_RHOA.md
Expression
include:tables/mermaid_RHOA.md