RET c.1912A>G ;(p.I638V)

Variant ID: 10-43609960-A-G

NM_020975.4(RET):c.1912A>G;(p.I638V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A case of Warthin-like papillary thyroid carcinoma with diffuse sclerosing stroma and a novel RET mutation: a new entity or a combined tumour?

Ecancermedicalscience
Maffini, Fausto F; Lorenzini, Daniele D; Lepanto, Daniela D; De Fiori, Elvio E; Fumagalli, Caterina C; Rappa, Alessandra A; Tagliabue, Marta M; Barberis, Massimo M
Publication Date: 2019

Variant appearance in text: RET: 1912A>G; I638V
PubMed Link: 31921336
Variant Present in the following documents:
  • Main text
  • can-13-965.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: RET: I638V
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page