RET c.731C>T ;(p.T244I)

Variant ID: 10-43600505-C-T

NM_020975.4(RET):c.731C>T;(p.T244I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


RET T244I Germline Variant Mutation in a Patient with Pancreatic Paraganglioma and Primary Hyperparathyroidism.

International Journal Of Endocrinology And Metabolism
Kim, Minha M; Aploks, Krist K; Vargas-Pinto, Susana S; Dong, Xiang X
Publication Date: 2022-07

Variant appearance in text: RET: 731C>T; T244I
PubMed Link: 36407031
Variant Present in the following documents:
  • ijem-20-3-121056.pdf
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: RET: 731C>T
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: RET: T244I
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Basturk, Olca O; Tan, Marcus M; Bhanot, Umesh U; Allen, Peter P; Adsay, Volkan V; Scott, Sasinya N SN; Shah, Ronak R; Berger, Michael F MF; Askan, Gokce G; Dikoglu, Esra E; Jobanputra, Vaidehi V; Wrzeszczynski, Kazimierz O KO; Sigel, Carlie C; Iacobuzio-Donahue, Christine C; Klimstra, David S DS
Publication Date: 2016-09

Variant appearance in text: RET: T244I
PubMed Link: 27282351
Variant Present in the following documents:
  • Main text
View BVdb publication page