BRAF c.1782T>C ;(p.D594=)

Variant ID: 7-140453153-A-G

NM_004333.4(BRAF):c.1782T>C;(p.D594=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications
Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; TirrĂ², Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G
Publication Date: 2023-03-11

Variant appearance in text: BRAF: D594D
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM4_ESM.xls, sheet 2
View BVdb publication page



Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.

Genome Biology
Thirunavukarasu, Deepak D; Cheng, Lauren Y LY; Song, Ping P; Chen, Sherry X SX; Borad, Mitesh J MJ; Kwong, Lawrence L; James, Phillip P; Turner, Daniel J DJ; Zhang, David Yu DY
Publication Date: 2021-09-06

Variant appearance in text: BRAF: 1782T>C; D594D
PubMed Link: 34482832
Variant Present in the following documents:
  • 13059_2021_2449_MOESM2_ESM.xlsx, sheet 1
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: BRAF: D594D
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: BRAF: 1782T>C
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



Development and validation of a clinical trial patient stratification assay that interrogates 27 mutation sites in MAPK pathway genes.

Plos One
Chang, Ken C N KC; Galuska, Stefan S; Weiner, Russell R; Marton, Matthew J MJ
Publication Date: 2013

Variant appearance in text: BRAF: D594D
PubMed Link: 23991070
Variant Present in the following documents:
  • Main text
  • pone.0072239.pdf
View BVdb publication page