RET c.2422A>G ;(p.K808E)

Variant ID: 10-43615008-A-G

NM_020975.4(RET):c.2422A>G;(p.K808E)

This variant was identified in 4 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: K808E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Cancers
Fernandez-Rozadilla, Ceres C; Alvarez-Barona, Miriam M; Schamschula, Esther E; Bodo, Sahra S; Lopez-Novo, Anael A; Dacal, Andres A; Calviño-Costas, Consuelo C; Lancho, Angel A; Amigo, Jorge J; Bello, Xabier X; Cameselle-Teijeiro, Jose Manuel JM; Carracedo, Angel A; Colas, Chrystelle C; Muleris, Martine M; Wimmer, Katharina K; Ruiz-Ponte, Clara C
Publication Date: 2019-07-30

Variant appearance in text: RET: K808E
PubMed Link: 31366136
Variant Present in the following documents:
  • cancers-11-01081-s001.pdf
View BVdb publication page



Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer
Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP
Publication Date: 2015-02

Variant appearance in text: RET: K808E
PubMed Link: 25425582
Variant Present in the following documents:
  • supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1
View BVdb publication page



Activity of XL184 (Cabozantinib), an oral tyrosine kinase inhibitor, in patients with medullary thyroid cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Kurzrock, Razelle R; Sherman, Steven I SI; Ball, Douglas W DW; Forastiere, Arlene A AA; Cohen, Roger B RB; Mehra, Ranee R; Pfister, David G DG; Cohen, Ezra E W EE; Janisch, Linda L; Nauling, Forlisa F; Hong, David S DS; Ng, Chaan S CS; Ye, Lei L; Gagel, Robert F RF; Frye, John J; Müller, Thomas T; Ratain, Mark J MJ; Salgia, Ravi R
Publication Date: 2011-07-01

Variant appearance in text: RET: K808E
PubMed Link: 21606412
Variant Present in the following documents:
  • Main text
View BVdb publication page