Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Gly12Val (p.G12V)
(
ENST00000688940.1,
ENST00000692768.1,
ENST00000256078.10,
ENST00000311936.8,
ENST00000556131.2,
ENST00000557334.6,
ENST00000685328.1,
ENST00000686969.1,
ENST00000693229.1 )
KRAS p.Gly12Ala (p.G12A) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Asp (p.G12D) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Val (p.G12V) ( ENST00000693229.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1 )
KRAS p.Gly12Ala (p.G12A) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000692768.1, ENST00000693229.1, ENST00000686969.1, ENST00000688940.1 )
KRAS p.Gly12Asp (p.G12D) ( ENST00000692768.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000693229.1 ) - Associated Disease
- cholangiocarcinoma
- Source Database
- DisGeNET
- Description
- Whereas the introduction of defined factors of iPC cells once induced an immature state and sensitized cells to therapeutic reagents, the endogenous expression of the ES-like genes except for activated endogenous c-MYC was down-regulated in a long-term culture, suggesting a high magnitude of the reprogramming induction by defined factors and the requirement of therapeutic maintenance in Lc-iPC cells from cholangiocellular carcinoma HuCC-T1 cells, which harbor TP53(R175H) and KRAS(G12D).
- Pubmed
- 20381452
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.126710101931887
- Year of publication
- 2010
Drugs