BRAF c.1743T>G ;(p.N581K)

Variant ID: 7-140453192-A-C

NM_004333.4(BRAF):c.1743T>G;(p.N581K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: BRAF: N581K
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: N581K
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: BRAF: N581K
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Interferon-γ Signaling in Melanocytes and Melanoma Cells Regulates Expression of CTLA-4.

Cancer Research
Mo, Xuan X; Zhang, Hanghang H; Preston, Sarah S; Martin, Kayla K; Zhou, Bo B; Vadalia, Nish N; Gamero, Ana M AM; Soboloff, Jonathan J; Tempera, Italo I; Zaidi, M Raza MR
Publication Date: 2018-01-15

Variant appearance in text: BRAF: N581K
PubMed Link: 29150430
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.

Genes & Development
Lim, Chae-Seok CS; Kang, Xi X; Mirabella, Vincent V; Zhang, Huaye H; Bu, Qian Q; Araki, Yoichi Y; Hoang, Elizabeth T ET; Wang, Shiqiang S; Shen, Ying Y; Choi, Sukwoo S; Kaang, Bong-Kiun BK; Chang, Qiang Q; Pang, Zhiping P ZP; Huganir, Richard L RL; Zhu, J Julius JJ
Publication Date: 2017-03-15

Variant appearance in text: BRAF: N581K
PubMed Link: 28404629
Variant Present in the following documents:
  • supp_31.6.537_Supplemental_Materials.pdf
View BVdb publication page



Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Plos Medicine
Hamblin, Angela A; Wordsworth, Sarah S; Fermont, Jilles M JM; Page, Suzanne S; Kaur, Kulvinder K; Camps, Carme C; Kaisaki, Pamela P; Gupta, Avinash A; Talbot, Denis D; Middleton, Mark M; Henderson, Shirley S; Cutts, Anthony A; Vavoulis, Dimitrios V DV; Housby, Nick N; Tomlinson, Ian I; Taylor, Jenny C JC; Schuh, Anna A
Publication Date: 2017-02

Variant appearance in text: BRAF: N581K
PubMed Link: 28196074
Variant Present in the following documents:
  • pmed.1002230.s004.xlsx, sheet 3
View BVdb publication page



Investigating the utility of human melanoma cell lines as tumour models.

Oncotarget
Vincent, Krista Marie KM; Postovit, Lynne-Marie LM
Publication Date: 2017-02-07

Variant appearance in text: BRAF: N581K
PubMed Link: 28060736
Variant Present in the following documents:
  • oncotarget-08-10498-s003.xlsx, sheet 1
View BVdb publication page



Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Journal Of Medical Genetics
Nava, Caroline C; Hanna, Nadine N; Michot, Caroline C; Pereira, Sabrina S; Pouvreau, Nathalie N; Niihori, Tetsuya T; Aoki, Yoko Y; Matsubara, Yoichi Y; Arveiler, Benoit B; Lacombe, Didier D; Pasmant, Eric E; Parfait, Béatrice B; Baumann, Clarisse C; Héron, Delphine D; Sigaudy, Sabine S; Toutain, Annick A; Rio, Marlène M; Goldenberg, Alice A; Leheup, Bruno B; Verloes, Alain A; Cavé, Hélène H
Publication Date: 2007-12

Variant appearance in text: BRAF: N581K
PubMed Link: 17704260
Variant Present in the following documents:
  • Main text
View BVdb publication page