RET c.2201A>C ;(p.E734A)

Variant ID: 10-43612096-A-C

NM_020975.4(RET):c.2201A>C;(p.E734A)

This variant was identified in 2 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: E734A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: E734A
PubMed Link: 24560924
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
View BVdb publication page