Annotation Detail
Information
- Associated Genes
- AKT3
- Associated Variants
-
AKT3 p.Glu17Lys (p.E17K)
(
ENST00000492957.2,
ENST00000263826.12,
ENST00000336199.9,
ENST00000366539.6,
ENST00000366540.5,
ENST00000672238.1,
ENST00000672578.1,
ENST00000673400.1,
ENST00000673466.1,
ENST00000680056.1 )
AKT3 p.Glu17Lys (p.E17K) ( ENST00000263826.12, ENST00000336199.9, ENST00000366539.6, ENST00000366540.5, ENST00000492957.2, ENST00000672238.1, ENST00000672578.1, ENST00000673400.1, ENST00000673466.1, ENST00000680056.1 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype AKT3 and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that cells virally induced to stably over-express AKT3 E17K were significantly more resistant to BRAF inhibition via vemurafenib than cells transduced with empty vectors (40% vs 20% survival, p = .0033).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4521
- Gene URL
- https://civic.genome.wustl.edu/links/genes/7936
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1227
- Rating
- 3
- 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 |