BRAF c.1795A>G ;(p.T599A)

Variant ID: 7-140453140-T-C

NM_004333.4(BRAF):c.1795A>G;(p.T599A)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology
Haefliger, Simon S; Marston, Katharina K; Alborelli, Ilaria I; Stauffer, Edouard-Jean EJ; Gugger, Mathias M; Jermann, Philip M PM; Hoeller, Sylvia S; Tornillo, Luigi L; Terracciano, Luigi M LM; Bihl, Michel M; Matter, Matthias S MS
Publication Date: 2022-10-06

Variant appearance in text: BRAF: T599A
PubMed Link: 36202073
Variant Present in the following documents:
  • pat-0090-0166-s01.pdf
View BVdb publication page



Bone fragility in patients affected by congenital diseases non skeletal in origin.

Orphanet Journal Of Rare Diseases
Masi, L L; Ferrari, S S; Javaid, M K MK; Papapoulos, S S; Pierroz, D D DD; Brandi, M L ML; ,
Publication Date: 2021-01-06

Variant appearance in text: BRAF: T599A
PubMed Link: 33407701
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1611.pdf
View BVdb publication page



BRAF Alteration in Central and Peripheral Nervous System Tumors.

Frontiers In Oncology
Srinivasa, Komal K; Cross, Kevin A KA; Dahiya, Sonika S
Publication Date: 2020

Variant appearance in text: BRAF: T599A
PubMed Link: 33042847
Variant Present in the following documents:
  • Main text
  • fonc-10-574974.pdf
View BVdb publication page



Targeting Aberrant RAS/RAF/MEK/ERK Signaling for Cancer Therapy.

Cells
Degirmenci, Ufuk U; Wang, Mei M; Hu, Jiancheng J
Publication Date: 2020-01-13

Variant appearance in text: BRAF: T599A
PubMed Link: 31941155
Variant Present in the following documents:
  • Main text
  • cells-09-00198.pdf
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: BRAF: T599A
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Langerhans cell histiocytosis in adults: Advances in pathophysiology and treatment.

Cancer Science
Kobayashi, Masayuki M; Tojo, Arinobu A
Publication Date: 2018-12

Variant appearance in text: BRAF: T599A
PubMed Link: 30281871
Variant Present in the following documents:
  • Main text
  • CAS-109-3707.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: T599A
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



The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.

Elife
Kiel, Christina C; Benisty, Hannah H; Lloréns-Rico, Veronica V; Serrano, Luis L
Publication Date: 2016-01-08

Variant appearance in text: BRAF: T599A
PubMed Link: 26744778
Variant Present in the following documents:
  • Main text
  • elife-12814.pdf
View BVdb publication page



Clinical detection and categorization of uncommon and concomitant mutations involving BRAF.

Bmc Cancer
Zheng, Gang G; Tseng, Li-Hui LH; Chen, Guoli G; Haley, Lisa L; Illei, Peter P; Gocke, Christopher D CD; Eshleman, James R JR; Lin, Ming-Tseh MT
Publication Date: 2015-10-24

Variant appearance in text: BRAF: T599A
PubMed Link: 26498038
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X?

British Journal Of Haematology
Berres, Marie-Luise ML; Merad, Miriam M; Allen, Carl E CE
Publication Date: 2015-04

Variant appearance in text: BRAF: T599A
PubMed Link: 25430560
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinase regulation by hydrophobic spine assembly in cancer.

Molecular And Cellular Biology
Hu, Jiancheng J; Ahuja, Lalima G LG; Meharena, Hiruy S HS; Kannan, Natarajan N; Kornev, Alexandr P AP; Taylor, Susan S SS; Shaw, Andrey S AS
Publication Date: 2015-01

Variant appearance in text: BRAF: T599A
PubMed Link: 25348715
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lys63-linked polyubiquitination of BRAF at lysine 578 is required for BRAF-mediated signaling.

Scientific Reports
An, Lei L; Jia, Wei W; Yu, Yang Y; Zou, Ning N; Liang, Li L; Zhao, Yanling Y; Fan, Yihui Y; Cheng, Jin J; Shi, Zhongcheng Z; Xu, Gufeng G; Li, Grace G; Yang, Jianhua J; Zhang, Hong H
Publication Date: 2013

Variant appearance in text: BRAF: T599A
PubMed Link: 23907581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Automated universal BRAF state detection within the activation segment in skin metastases by pyrosequencing-based assay U-BRAF(V600).

Plos One
Skorokhod, Alexander A; Helmbold, Peter P; Brors, Benedikt B; Schirmacher, Peter P; Enk, Alexander A; Penzel, Roland R
Publication Date: 2013

Variant appearance in text: BRAF: T599A
PubMed Link: 23555633
Variant Present in the following documents:
  • Main text
  • pone.0059221.pdf
  • pone.0059221.s002.pdf
View BVdb publication page



B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease.

Plos One
Satoh, Takeshi T; Smith, Alexander A; Sarde, Aurelien A; Lu, Hui-chun HC; Mian, Syed S; Mian, Sophie S; Trouillet, Celine C; Mufti, Ghulam G; Emile, Jean-Francois JF; Fraternali, Franca F; Donadieu, Jean J; Geissmann, Frederic F
Publication Date: 2012

Variant appearance in text: BRAF: T599A
PubMed Link: 22506009
Variant Present in the following documents:
  • Main text
  • pone.0033891.pdf
View BVdb publication page