BRAF c.2245G>A ;(p.A749T)

Variant ID: 7-140434453-C-T

NM_004333.4(BRAF):c.2245G>A;(p.A749T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Thoracic Cancer
Jiang, Ning N; Zhou, Jie J; Zhang, Wenhao W; Li, Peichao P; Liu, Yu Y; Shi, Hubo H; Zhang, Chengke C; Wang, Yunshan Y; Zhou, Chengjun C; Peng, Chuanliang C; Zhang, Weiquan W; Hao, Yingtao Y; Sun, Qifeng Q; Li, Yuliang Y; Zhao, Xiaogang X
Publication Date: 2021-01

Variant appearance in text: BRAF: A749T
PubMed Link: 33200540
Variant Present in the following documents:
  • TCA-12-181-s003.xlsx, sheet 1
View BVdb publication page



DNA sequencing of cytopathologically inconclusive EUS-FNA from solid pancreatic lesions suspicious for malignancy confirms EUS diagnosis.

Endoscopic Ultrasound
Plougmann, Julie Isabelle JI; Klausen, Pia P; Toxvaerd, Anders A; Abedi, Armita Armina AA; Kovacevic, Bojan B; Karstensen, John Gásdal JG; Poulsen, Tim Svenstrup TS; Kalaitzakis, Evangelos E; Høgdall, Estrid E; Vilmann, Peter P
Publication Date: 2020

Variant appearance in text: BRAF: A749T
PubMed Link: 31552911
Variant Present in the following documents:
  • Main text
  • EUS-9-37.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: BRAF: A749T
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page