BRAF c.1490C>T ;(p.A497V)

Variant ID: 7-140477818-G-A

NM_004333.4(BRAF):c.1490C>T;(p.A497V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One
Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D
Publication Date: 2022

Variant appearance in text: BRAF: 1490C>T
PubMed Link: 36155654
Variant Present in the following documents:
  • pone.0275121.s002.xlsx, sheet 16
View BVdb publication page



Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature Communications
Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE
Publication Date: 2020-10-01

Variant appearance in text: BRAF: 1490C>T; Ala497Val
PubMed Link: 33004838
Variant Present in the following documents:
  • 41467_2020_18723_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_18723_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genetic and Genomic Characterization of 462 Melanoma Patient-Derived Xenografts, Tumor Biopsies, and Cell Lines.

Cell Reports
Garman, Bradley B; Anastopoulos, Ioannis N IN; Krepler, Clemens C; Brafford, Patricia P; Sproesser, Katrin K; Jiang, Yuchao Y; Wubbenhorst, Bradley B; Amaravadi, Ravi R; Bennett, Joseph J; Beqiri, Marilda M; Elder, David D; Flaherty, Keith T KT; Frederick, Dennie T DT; Gangadhar, Tara C TC; Guarino, Michael M; Hoon, David D; Karakousis, Giorgos G; Liu, Qin Q; Mitra, Nandita N; Petrelli, Nicholas J NJ; Schuchter, Lynn L; Shannan, Batool B; Shields, Carol L CL; Wargo, Jennifer J; Wenz, Brandon B; Wilson, Melissa A MA; Xiao, Min M; Xu, Wei W; Xu, Xaiowei X; Yin, Xiangfan X; Zhang, Nancy R NR; Davies, Michael A MA; Herlyn, Meenhard M; Nathanson, Katherine L KL
Publication Date: 2017-11-14

Variant appearance in text: BRAF: A497V
PubMed Link: 29141224
Variant Present in the following documents:
  • Main text
View BVdb publication page



CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Gut
Manic, Gwenola G; Signore, Michele M; Sistigu, Antonella A; Russo, Giorgio G; Corradi, Francesca F; Siteni, Silvia S; Musella, Martina M; Vitale, Sara S; De Angelis, Maria Laura ML; Pallocca, Matteo M; Amoreo, Carla Azzurra CA; Sperati, Francesca F; Di Franco, Simone S; Barresi, Sabina S; Policicchio, Eleonora E; De Luca, Gabriele G; De Nicola, Francesca F; Mottolese, Marcella M; Zeuner, Ann A; Fanciulli, Maurizio M; Stassi, Giorgio G; Maugeri-Saccà, Marcello M; Baiocchi, Marta M; Tartaglia, Marco M; Vitale, Ilio I; De Maria, Ruggero R
Publication Date: 2018-05

Variant appearance in text: BRAF: 1490C>T; Ala497Val
PubMed Link: 28389531
Variant Present in the following documents:
  • gutjnl-2016-312623supp002.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: BRAF: A497V
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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: A497V
PubMed Link: 26744778
Variant Present in the following documents:
  • elife-12814-supp1.xlsx, sheet 2
View BVdb publication page