Annotation Detail
Information
- Associated Genes
- AKT1
- Associated Variants
-
AKT1 p.Glu17Lys (p.E17K)
(
ENST00000402615.6,
ENST00000349310.7,
ENST00000554848.5,
ENST00000555528.5,
ENST00000407796.7,
ENST00000553797.2,
ENST00000554192.6,
ENST00000554581.5,
ENST00000555458.6,
ENST00000649815.2,
ENST00000683722.1,
ENST00000714123.1,
ENST00000714130.1 )
AKT1 p.Glu17Lys (p.E17K) ( ENST00000349310.7, ENST00000402615.6, ENST00000407796.7, ENST00000553797.2, ENST00000554192.6, ENST00000554581.5, ENST00000554848.5, ENST00000555458.6, ENST00000555528.5, ENST00000649815.2, ENST00000683722.1, ENST00000714123.1, ENST00000714130.1 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, a M229 cell line endogenously expressing BRAF V600E mutation (a known vemurafenib sensitizing mutation) and overexpressing AKT1 E17K mutation was associated with resistance to vemurafenib treatment, as compared to cells expressing BRAF V600E mutation and wildtype AKT1. Resistance was determined by assessing cell survival.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4029
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2
- Variant URL
- https://civic.genome.wustl.edu/links/variants/4
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24265155
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |