ATP6V1B2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @okosunRecurrentMTORC1activatingRRAGC2016,
Experimental Evidence
Driver mutations affecting this gene in FL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@krysiakRecurrentSomaticMutations2017]
Relevance tier by entity
include:tables/table1_ATP6V1B2.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
FL
Mutation pattern and selective pressure estimates
include:tables/dnds_ATP6V1B2.md
ATP6V1B2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr8 | 20074768 | G>A | R400Q |
include:tables/browser_ATP6V1B2.md
Expression
include:tables/mermaid_ATP6V1B2.md