RET c.2317_2318delinsGC ;(p.L773A)

Variant ID: 10-43613853-CT-GC

NM_020975.4(RET):c.2317_2318delinsGC;(p.L773A)

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: L773A
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: L773A
PubMed Link: 28009299
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc2.pdf
View BVdb publication page