RET c.2975C>T ;(p.P992L)

Variant ID: 10-43620366-C-T

NM_020975.4(RET):c.2975C>T;(p.P992L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Beyond KRAS: Practical Molecular Targets in Pancreatic Adenocarcinoma.

Case Reports In Oncology
Grinshpun, Albert A; Zarbiv, Yonaton Y; Roszik, Jason J; Subbiah, Vivek V; Hubert, Ayala A
Publication Date: 2019

Variant appearance in text: RET: P992L
PubMed Link: 30792639
Variant Present in the following documents:
  • Main text
  • cro-0012-0007.pdf
View BVdb publication page



Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Bmc Medical Genetics
Núñez-Torres, Rocio R; Fernández, Raquel M RM; Acosta, Manuel Jesus MJ; Enguix-Riego, Maria Del Valle Mdel V; Marbá, Martina M; Carlos de Agustín, Juan J; Castaño, Luis L; Antiñolo, Guillermo G; Borrego, Salud S
Publication Date: 2011-10-13

Variant appearance in text: RET: Pro992Leu
PubMed Link: 21995290
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-138.pdf
View BVdb publication page



Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

Plos One
Ruiz-Ferrer, Macarena M; Torroglosa, Ana A; Núñez-Torres, Rocío R; de Agustín, Juan Carlos JC; Antiñolo, Guillermo G; Borrego, Salud S
Publication Date: 2011

Variant appearance in text: RET: P992L
PubMed Link: 21858136
Variant Present in the following documents:
  • Main text
View BVdb publication page