Annotation Detail
Information
- Associated Genes
- AKT1
- Associated Variants
-
AKT1 p.Gln79Lys (p.Q79K)
(
ENST00000554192.6,
ENST00000554581.5,
ENST00000402615.6,
ENST00000554848.5,
ENST00000555458.6,
ENST00000407796.7,
ENST00000349310.7,
ENST00000553797.2,
ENST00000555528.5,
ENST00000649815.2,
ENST00000683722.1,
ENST00000714123.1,
ENST00000714130.1 )
AKT1 p.Gln79Lys (p.Q79K) ( 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
- The AKT1 Q79K mutation has been shown to confer resistance to BRAF inhibitors (vemurafenib) in melanoma cell line M229.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/439
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2
- Variant URL
- https://civic.genome.wustl.edu/links/variants/169
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24265152
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |