RET c.2699A>T ;(p.Y900F)

Variant ID: 10-43615620-A-T

NM_020975.4(RET):c.2699A>T;(p.Y900F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: RET: Y900F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



RET Functions as a Dual-Specificity Kinase that Requires Allosteric Inputs from Juxtamembrane Elements.

Cell Reports
Plaza-Menacho, Iván I; Barnouin, Karin K; Barry, Rachael R; Borg, Annabel A; Orme, Mariam M; Chauhan, Rakhee R; Mouilleron, Stephane S; Martínez-Torres, Rubén J RJ; Meier, Pascal P; McDonald, Neil Q NQ
Publication Date: 2016-12-20

Variant appearance in text: RET: Y900F
PubMed Link: 28009299
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Oncogenic RET kinase domain mutations perturb the autophosphorylation trajectory by enhancing substrate presentation in trans.

Molecular Cell
Plaza-Menacho, Iván I; Barnouin, Karin K; Goodman, Kerry K; Martínez-Torres, Rubén J RJ; Borg, Annabel A; Murray-Rust, Judith J; Mouilleron, Stephane S; Knowles, Phillip P; McDonald, Neil Q NQ
Publication Date: 2014-03-06

Variant appearance in text: RET: Y900F
PubMed Link: 24560924
Variant Present in the following documents:
  • Main text
View BVdb publication page



Focal adhesion kinase (FAK) binds RET kinase via its FERM domain, priming a direct and reciprocal RET-FAK transactivation mechanism.

The Journal Of Biological Chemistry
Plaza-Menacho, Iván I; Morandi, Andrea A; Mologni, Luca L; Boender, Piet P; Gambacorti-Passerini, Carlo C; Magee, Anthony I AI; Hofstra, Robert M W RM; Knowles, Phillip P; McDonald, Neil Q NQ; Isacke, Clare M CM
Publication Date: 2011-05-13

Variant appearance in text: RET: Y900F
PubMed Link: 21454698
Variant Present in the following documents:
  • Main text
View BVdb publication page