Annotation Detail
Information
- Associated Genes
- RAF1
- Associated Variants
-
RAF1 p.Ser259Pro (p.S259P)
(
ENST00000251849.9,
ENST00000442415.7,
ENST00000685437.1,
ENST00000685653.1,
ENST00000687923.1,
ENST00000688543.1,
ENST00000689389.1,
ENST00000690397.1,
ENST00000690460.1,
ENST00000691899.1,
ENST00000692093.1,
ENST00000693312.1 )
RAF1 p.Ser259Thr (p.S259T) ( ENST00000251849.9, ENST00000442415.7, ENST00000685437.1, ENST00000685653.1, ENST00000687923.1, ENST00000688543.1, ENST00000689389.1, ENST00000690397.1, ENST00000690460.1, ENST00000691899.1, ENST00000692093.1, ENST00000693312.1 )
RAF1 p.Ser259Pro (p.S259P) ( ENST00000693312.1, ENST00000251849.9, ENST00000442415.7, ENST00000685437.1, ENST00000685653.1, ENST00000687923.1, ENST00000688543.1, ENST00000689389.1, ENST00000690397.1, ENST00000690460.1, ENST00000691899.1, ENST00000692093.1 )
RAF1 p.Ser259Thr (p.S259T) ( ENST00000251849.9, ENST00000442415.7, ENST00000685437.1, ENST00000685653.1, ENST00000687923.1, ENST00000688543.1, ENST00000689389.1, ENST00000690397.1, ENST00000690460.1, ENST00000691899.1, ENST00000692093.1, ENST00000693312.1 ) - Associated Disease
- Lymphangiectasis
- Source Database
- DisGeNET
- Description
- Excessive production of lymphatic ECs resulted in lymphangiectasia that was highly reminiscent of abnormal lymphatics seen in Noonan syndrome and similar RASopathies. Inhibition of ERK signaling during development abrogated the lymphatic differentiation program and rescued the lymphatic phenotypes induced by expression of RAF1(S259A).
- Pubmed
- 23391722
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs