RET c.2273A>G ;(p.K758R)

Variant ID: 10-43612168-A-G

NM_020975.4(RET):c.2273A>G;(p.K758R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


PTPRA Phosphatase Regulates GDNF-Dependent RET Signaling and Inhibits the RET Mutant MEN2A Oncogenic Potential.

Iscience
Yadav, Leena L; Pietilä, Elina E; Öhman, Tiina T; Liu, Xiaonan X; Mahato, Arun K AK; Sidorova, Yulia Y; Lehti, Kaisa K; Saarma, Mart M; Varjosalo, Markku M
Publication Date: 2020-02-21

Variant appearance in text: MEN2B: K758R
PubMed Link: 32062451
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



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: K758R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Functional characterization of a novel FGFR1OP-RET rearrangement in hematopoietic malignancies.

Molecular Oncology
Bossi, Daniela D; Carlomagno, Francesca F; Pallavicini, Isabella I; Pruneri, Giancarlo G; Trubia, Maurizio M; Raviele, Paola Rafaniello PR; Marinelli, Alessandra A; Anaganti, Suresh S; Cox, Maria Christina MC; Viale, Giuseppe G; Santoro, Massimo M; Di Fiore, Pier Paolo PP; Minucci, Saverio S
Publication Date: 2014-03

Variant appearance in text: RET: K758R
PubMed Link: 24315414
Variant Present in the following documents:
  • Main text
View BVdb publication page



RET is a potential tumor suppressor gene in colorectal cancer.

Oncogene
Luo, Y Y; Tsuchiya, K D KD; Il Park, D D; Fausel, R R; Kanngurn, S S; Welcsh, P P; Dzieciatkowski, S S; Wang, J J; Grady, W M WM
Publication Date: 2013-04-18

Variant appearance in text: RET: K758R
PubMed Link: 22751117
Variant Present in the following documents:
  • Main text
  • NIHMS375373-supplement-12.pdf
  • nihms-375373.pdf
View BVdb publication page



RET modulates cell adhesion via its cleavage by caspase in sympathetic neurons.

The Journal Of Biological Chemistry
Cabrera, Jorge R JR; Bouzas-Rodriguez, Jimena J; Tauszig-Delamasure, Servane S; Mehlen, Patrick P
Publication Date: 2011-04-22

Variant appearance in text: RET: K758R
PubMed Link: 21357690
Variant Present in the following documents:
  • Main text
View BVdb publication page



The dependence receptor Ret induces apoptosis in somatotrophs through a Pit-1/p53 pathway, preventing tumor growth.

The Embo Journal
Cañibano, Carmen C; Rodriguez, Noela L NL; Saez, Carmen C; Tovar, Sulay S; Garcia-Lavandeira, Montse M; Borrello, Maria Grazia MG; Vidal, Anxo A; Costantini, Frank F; Japon, Miguel M; Dieguez, Carlos C; Alvarez, Clara V CV
Publication Date: 2007-04-18

Variant appearance in text: RET: K758R
PubMed Link: 17380130
Variant Present in the following documents:
  • Main text
View BVdb publication page