Annotation Detail
Information
- Associated Genes
- RAC1
- Associated Variants
-
RAC1 p.Pro29Ser (p.P29S)
(
ENST00000348035.9,
ENST00000356142.4,
ENST00000704002.1 )
RAC1 p.Pro29Ser (p.P29S) ( ENST00000348035.9, ENST00000356142.4, ENST00000704002.1 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- Melanoma cell lines harboring the RAC1 P29S hotspot mutation were shown to be resistant to BRAF inhibition with vemurafenib or dabrafenib and knock-in or knock-out of this mutation decreased and increased sensitivity to these drugs.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/873
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4753
- Variant URL
- https://civic.genome.wustl.edu/links/variants/367
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Dabrafenib,Vemurafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25056119
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Dabrafenib | Resitance or Non-Reponse | true |
| Vemurafenib | Resitance or Non-Reponse | true |