BRAF c.770A>G ;(p.Q257R)

Variant ID: 7-140501302-T-C

NM_004333.4(BRAF):c.770A>G;(p.Q257R)

This variant was identified in 87 publications

View GRCh38 version.




Publications:


Unveiling the Domain-Specific and RAS Isoform-Specific Details of BRAF Regulation.

Biorxiv : The Preprint Server For Biology
Trebino, Tarah T; Markusic, Borna B; Nan, Haihan H; Banerjee, Shrhea S; Wang, Zhihong Z
Publication Date: 2023-04-24

Variant appearance in text: BRAF: Q257R
PubMed Link: 37163002
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.24.538112v1.pdf
View BVdb publication page



Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Frontiers In Genetics
Tran Mau-Them, Frédéric F; Delanne, Julian J; Denommé-Pichon, Anne-Sophie AS; Safraou, Hana H; Bruel, Ange-Line AL; Vitobello, Antonio A; Garde, Aurore A; Nambot, Sophie S; Bourgon, Nicolas N; Racine, Caroline C; Sorlin, Arthur A; Moutton, Sébastien S; Marle, Nathalie N; Rousseau, Thierry T; Sagot, Paul P; Simon, Emmanuel E; Vincent-Delorme, Catherine C; Boute, Odile O; Colson, Cindy C; Petit, Florence F; Legendre, Marine M; Naudion, Sophie S; Rooryck, Caroline C; Prouteau, Clément C; Colin, Estelle E; Guichet, Agnès A; Ziegler, Alban A; Bonneau, Dominique D; Morel, Godelieve G; Fradin, Mélanie M; Lavillaureix, Alinoé A; Quelin, Chloé C; Pasquier, Laurent L; Odent, Sylvie S; Vera, Gabriella G; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Brehin, Anne-Claire AC; Putoux, Audrey A; Attia, Jocelyne J; Abel, Carine C; Blanchet, Patricia P; Wells, Constance F CF; Deiller, Caroline C; Nizon, Mathilde M; Mercier, Sandra S; Vincent, Marie M; Isidor, Bertrand B; Amiel, Jeanne J; Dard, Rodolphe R; Godin, Manon M; Gruchy, Nicolas N; Jeanne, Médéric M; Schaeffer, Elise E; Maillard, Pierre-Yves PY; Payet, Frédérique F; Jacquemont, Marie-Line ML; Francannet, Christine C; Sigaudy, Sabine S; Bergot, Marine M; Tisserant, Emilie E; Ascencio, Marie-Laure ML; Binquet, Christine C; Duffourd, Yannis Y; Philippe, Christophe C; Faivre, Laurence L; Thauvin-Robinet, Christel C
Publication Date: 2023

Variant appearance in text: BRAF: Gln257Arg
PubMed Link: 37035737
Variant Present in the following documents:
  • Main text
  • fgene-14-1099995.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Nature Communications
Bernkopf, Marie M; Abdullah, Ummi B UB; Bush, Stephen J SJ; Wood, Katherine A KA; Ghaffari, Sahar S; Giannoulatou, Eleni E; Koelling, Nils N; Maher, Geoffrey J GJ; Thibaut, Loïc M LM; Williams, Jonathan J; Blair, Edward M EM; Kelly, Fiona Blanco FB; Bloss, Angela A; Burkitt-Wright, Emma E; Canham, Natalie N; Deng, Alexander T AT; Dixit, Abhijit A; Eason, Jacqueline J; Elmslie, Frances F; Gardham, Alice A; Hay, Eleanor E; Holder, Muriel M; Homfray, Tessa T; Hurst, Jane A JA; Johnson, Diana D; Jones, Wendy D WD; Kini, Usha U; Kivuva, Emma E; Kumar, Ajith A; Lees, Melissa M MM; Leitch, Harry G HG; Morton, Jenny E V JEV; Németh, Andrea H AH; Ramachandrappa, Shwetha S; Saunders, Katherine K; Shears, Deborah J DJ; Side, Lucy L; Splitt, Miranda M; Stewart, Alison A; Stewart, Helen H; Suri, Mohnish M; Clouston, Penny P; Davies, Robert W RW; Wilkie, Andrew O M AOM; Goriely, Anne A
Publication Date: 2023-02-15

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 36792598
Variant Present in the following documents:
  • 41467_2023_36606_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Kenney-Jung, Daniel L DL; Rogers, Dante J DJ; Kroening, Samuel J SJ; Zatkalik, Abigail L AL; Whitmarsh, Ashley E AE; Roberts, Amy E AE; Zenker, Martin M; Gambardella, Maria Luigia ML; Contaldo, Ilaria I; Leoni, Chiara C; Onesimo, Roberta R; Zampino, Giuseppe G; Tartaglia, Marco M; Battaglia, Domenica I DI; Pierpont, Elizabeth I EI
Publication Date: 2022-11-29

Variant appearance in text: BRAF: Q257R
PubMed Link: 36448195
Variant Present in the following documents:
  • Main text
  • AJMG-190-501.pdf
View BVdb publication page



Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ
Publication Date: 2022-12-06

Variant appearance in text: BRAF: Q257R
PubMed Link: 36442087
Variant Present in the following documents:
  • pnas.2211429119.sapp.pdf
  • pnas.2211429119.sd02.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.

The Application Of Clinical Genetics
Chaves Rabelo, Natana N; Gomes, Maria Eduarda ME; de Oliveira Moraes, Isabelle I; Cantagalli Pfisterer, Juliana J; Loss de Morais, Guilherme G; Antunes, Deborah D; Caffarena, Ernesto Raúl ER; Llerena, Juan J; Gonzalez, Sayonara S
Publication Date: 2022

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 36304179
Variant Present in the following documents:
  • Main text
  • tacg-15-153.pdf
View BVdb publication page



Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.

Frontiers In Endocrinology
Bando, Hironori H; Urai, Shin S; Kanie, Keitaro K; Sasaki, Yuriko Y; Yamamoto, Masaaki M; Fukuoka, Hidenori H; Iguchi, Genzo G; Camper, Sally A SA
Publication Date: 2022

Variant appearance in text: BRAF: Q257R
PubMed Link: 36237189
Variant Present in the following documents:
  • Main text
  • fendo-13-1008306.pdf
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: BRAF: 770A>G; Q257R
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Jto Clinical And Research Reports
Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL
Publication Date: 2022-04

Variant appearance in text: BRAF: Q257R
PubMed Link: 35392653
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Precision drugging of the MAPK pathway in head and neck cancer.

Npj Genomic Medicine
Ngan, Hoi-Lam HL; Law, Chun-Ho CH; Choi, Yannie Chung Yan YCY; Chan, Jenny Yu-Sum JY; Lui, Vivian Wai Yan VWY
Publication Date: 2022-03-16

Variant appearance in text: BRAF: Q257R
PubMed Link: 35296678
Variant Present in the following documents:
  • Main text
  • 41525_2022_Article_293.pdf
View BVdb publication page



Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 35244186
Variant Present in the following documents:
  • Supplementary_Data3.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 1
View BVdb publication page



The RASopathies: from pathogenetics to therapeutics.

Disease Models & Mechanisms
Hebron, Katie E KE; Hernandez, Edjay Ralph ER; Yohe, Marielle E ME
Publication Date: 2022-02-01

Variant appearance in text: BRAF: Q257R
PubMed Link: 35178568
Variant Present in the following documents:
  • Main text
View BVdb publication page



Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment.

Genes
Vasic, Verica V; Jones, Mattson S O MSO; Haslinger, Denise D; Knaus, Lisa S LS; Schmeisser, Michael J MJ; Novarino, Gaia G; Chiocchetti, Andreas G AG
Publication Date: 2021-10-30

Variant appearance in text: BRAF: 770A>G; Q257R
PubMed Link: 34828352
Variant Present in the following documents:
  • Main text
  • genes-12-01746.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: BRAF: Q257R
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Genes
Battaglia, Domenica I DI; Gambardella, Maria Luigia ML; Veltri, Stefania S; Contaldo, Ilaria I; Chillemi, Giovanni G; Veredice, Chiara C; Quintiliani, Michela M; Leoni, Chiara C; Onesimo, Roberta R; Verdolotti, Tommaso T; Radio, Francesca Clementina FC; Martinelli, Diego D; Trivisano, Marina M; Specchio, Nicola N; Dravet, Charlotte C; Tartaglia, Marco M; Zampino, Giuseppe G
Publication Date: 2021-08-26

Variant appearance in text: BRAF: Gln257Arg
PubMed Link: 34573299
Variant Present in the following documents:
  • Main text
  • genes-12-01316.pdf
View BVdb publication page



Co-mutations of epidermal growth factor receptor and BRAF in Chinese non-small cell lung cancer patients.

Annals Of Translational Medicine
Peng, Panli P; Lv, Guoli G; Hu, Jinwei J; Wang, Kai K; Lv, Junhong J; Guo, Gang G
Publication Date: 2021-08

Variant appearance in text: BRAF: Q257R
PubMed Link: 34532458
Variant Present in the following documents:
  • Main text
  • atm-09-16-1321.pdf
View BVdb publication page



Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Bjog : An International Journal Of Obstetrics And Gynaecology
Mellis, R R; Eberhardt, R Y RY; Hamilton, S J SJ; , ; McMullan, D J DJ; Kilby, M D MD; Maher, E R ER; Hurles, M E ME; Giordano, J L JL; Aggarwal, V V; Goldstein, D B DB; Wapner, R J RJ; Chitty, L S LS
Publication Date: 2022-01

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 34411415
Variant Present in the following documents:
  • Main text
  • BJO-129-52.pdf
View BVdb publication page



Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Frontiers In Cell And Developmental Biology
Jiang, Xue X; Chen, Yihuan Y; Liu, Xiaofeng X; Ye, Lingqun L; Yu, Miao M; Shen, Zhenya Z; Lei, Wei W; Hu, Shijun S
Publication Date: 2021

Variant appearance in text: BRAF: Q257R
PubMed Link: 34079803
Variant Present in the following documents:
  • Main text
  • fcell-09-672039.pdf
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: BRAF: 770A>G; Q257R; rs180177035
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
  • 12035_2021_2377_MOESM10_ESM.xlsx, sheet 1
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy.

Iscience
Das, Tirtha K TK; Gatto, Jared J; Mirmira, Rupa R; Hourizadeh, Ethan E; Kaufman, Dalia D; Gelb, Bruce D BD; Cagan, Ross R
Publication Date: 2021-04-23

Variant appearance in text: BRAF: Q257R
PubMed Link: 33855281
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.

Nature Communications
Gualtieri, Angelica A; Kyprianou, Nikolina N; Gregory, Louise C LC; Vignola, Maria Lillina ML; Nicholson, James G JG; Tan, Rachael R; Inoue, Shin-Ichi SI; Scagliotti, Valeria V; Casado, Pedro P; Blackburn, James J; Abollo-Jimenez, Fernando F; Marinelli, Eugenia E; Besser, Rachael E J REJ; Högler, Wolfgang W; Karen Temple, I I; Davies, Justin H JH; Gagunashvili, Andrey A; Robinson, Iain C A F ICAF; Camper, Sally A SA; Davis, Shannon W SW; Cutillas, Pedro R PR; Gevers, Evelien F EF; Aoki, Yoko Y; Dattani, Mehul T MT; Gaston-Massuet, Carles C
Publication Date: 2021-04-01

Variant appearance in text: BRAF: 770A>G; Q257R
PubMed Link: 33795686
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21712.pdf
  • 41467_2021_21712_MOESM1_ESM.pdf
View BVdb publication page



Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 33726816
Variant Present in the following documents:
  • 13073_2021_855_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



High prevalence of clonal hematopoiesis-type genomic abnormalities in cell-free DNA in invasive gliomas after treatment.

International Journal Of Cancer
Okamura, Ryosuke R; Piccioni, David E DE; Boichard, Amélie A; Lee, Suzanna S; Jimenez, Rebecca E RE; Sicklick, Jason K JK; Kato, Shumei S; Kurzrock, Razelle R
Publication Date: 2021-06-01

Variant appearance in text: BRAF: Q257R
PubMed Link: 33497479
Variant Present in the following documents:
  • IJC-148-2839-s001.pdf
View BVdb publication page



Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Orphanet Journal Of Rare Diseases
Leoni, Chiara C; Romeo, Domenico Marco DM; Pelliccioni, Michele M; Di Già, Mariangela M; Onesimo, Roberta R; Giorgio, Valentina V; Flex, Elisabetta E; Tedesco, Marta M; Tartaglia, Marco M; Rigante, Donato D; Valassina, Antonio A; Zampino, Giuseppe G
Publication Date: 2021-01-22

Variant appearance in text: BRAF: Gln257Arg
PubMed Link: 33482860
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: BRAF: 770A>G; Q257R
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
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: 770A>G; Gln257Arg
PubMed Link: 33004838
Variant Present in the following documents:
  • 41467_2020_18723_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.

Birth Defects Research
Patterson, Victoria L VL; Burdine, Rebecca D RD
Publication Date: 2020-06

Variant appearance in text: BRAF: Q257R
PubMed Link: 32506834
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRAFV600E expression in neural progenitors results in a hyperexcitable phenotype in neocortical pyramidal neurons.

Journal Of Neurophysiology
Goz, Roman U RU; Akgül, Gülcan G; LoTurco, Joseph J JJ
Publication Date: 2020-06-01

Variant appearance in text: BRAF: Q257R
PubMed Link: 32401131
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: BRAF: Q257R
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Genome Medicine
Adashek, Jacob J JJ; Kato, Shumei S; Lippman, Scott M SM; Kurzrock, Razelle R
Publication Date: 2020-02-17

Variant appearance in text: BRAF: Q257R
PubMed Link: 32066498
Variant Present in the following documents:
  • Main text
View BVdb publication page



A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.

Bmc Gastroenterology
Wang, Na N; Shi, Wen W; Jiao, Yang Y
Publication Date: 2020-02-13

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 32054441
Variant Present in the following documents:
  • Main text
  • 12876_2020_Article_1187.pdf
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 12
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 13
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The impact of RASopathy-associated mutations on CNS development in mice and humans.

Molecular Brain
Kang, Minkyung M; Lee, Yong-Seok YS
Publication Date: 2019-11-21

Variant appearance in text: BRAF: Q257R
PubMed Link: 31752929
Variant Present in the following documents:
  • Main text
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Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv
Urban, J J; Qi, L L; Zhao, H H; Rybak, I I; Rauen, K A KA; Kiuru, M M
Publication Date: 2020-03

Variant appearance in text: BRAF: Q257R
PubMed Link: 31736117
Variant Present in the following documents:
  • Main text
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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences
Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H
Publication Date: 2019-09-06

Variant appearance in text: BRAF: Q257R
PubMed Link: 31489928
Variant Present in the following documents:
  • Main text
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Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
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Neurodevelopmental Aspects of RASopathies.

Molecules And Cells
Kim, Ye Eun YE; Baek, Seung Tae ST
Publication Date: 2019-06-30

Variant appearance in text: BRAF: Q257R
PubMed Link: 31250618
Variant Present in the following documents:
  • Main text
  • molce-42-441.pdf
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PEDIA: prioritization of exome data by image analysis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM
Publication Date: 2019-12

Variant appearance in text: BRAF: 770A>G
PubMed Link: 31164752
Variant Present in the following documents:
  • 41436_2019_566_MOESM2_ESM.xlsx, sheet 1
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Design and Synthesis of Type-IV Inhibitors of BRAF Kinase That Block Dimerization and Overcome Paradoxical MEK/ERK Activation.

Journal Of Medicinal Chemistry
Beneker, Chad M CM; Rovoli, Magdalini M; Kontopidis, George G; Röring, Michael M; Galda, Simeon S; Braun, Sandra S; Brummer, Tilman T; McInnes, Campbell C
Publication Date: 2019-04-25

Variant appearance in text: BRAF: Q257R
PubMed Link: 30977659
Variant Present in the following documents:
  • Main text
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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: BRAF: 770A>G; Gln257Arg
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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Analysis of cell-free circulating tumor DNA in 419 patients with glioblastoma and other primary brain tumors.

Cns Oncology
Piccioni, David E DE; Achrol, Achal Singh AS; Kiedrowski, Lesli A LA; Banks, Kimberly C KC; Boucher, Najee N; Barkhoudarian, Garni G; Kelly, Daniel F DF; Juarez, Tiffany T; Lanman, Richard B RB; Raymond, Victoria M VM; Nguyen, Minhdan M; Truong, Judy D JD; Heng, Annie A; Gill, Jaya J; Saria, Marlon M; Pingle, Sandeep C SC; Kesari, Santosh S
Publication Date: 2019-06

Variant appearance in text: BRAF: Q257R
PubMed Link: 30855176
Variant Present in the following documents:
  • Main text
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Abstracts of the XIX International Congress of Neuropathology, Tokyo, Japan, September 23-27, 2018.

Brain Pathology (Zurich, Switzerland)
Publication Date: 2019-02

Variant appearance in text: BRAF: Q257R
PubMed Link: 30815958
Variant Present in the following documents:
  • Main text
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Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.

Orphanet Journal Of Rare Diseases
Chen, Hao H; Li, Xin X; Liu, Xiaoliang X; Wang, Jian J; Zhang, Zhen Z; Wu, Jinjin J; Huang, Meirong M; Guo, Ying Y; Li, Fen F; Wang, Xiumin X; Fu, Lijun L
Publication Date: 2019-02-07

Variant appearance in text: BRAF: 770A>G; Q257R
PubMed Link: 30732632
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1010.pdf
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Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review.

Pflugers Archiv : European Journal Of Physiology
Eschenhagen, Thomas T; Carrier, Lucie L
Publication Date: 2019-05

Variant appearance in text: BRAF: Gln257Arg
PubMed Link: 30324321
Variant Present in the following documents:
  • Main text
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Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Journal Of Biomedical Science
Wu-Chou, Yah-Huei YH; Hung, Tzu-Chao TC; Lin, Yin-Ting YT; Cheng, Hsing-Wen HW; Lin, Ju-Li JL; Lin, Chih-Hung CH; Yu, Chung-Chih CC; Chen, Kuo-Ting KT; Yeh, Tu-Hsueh TH; Chen, Yu-Ray YR
Publication Date: 2018-10-05

Variant appearance in text: BRAF: Q257R
PubMed Link: 30290804
Variant Present in the following documents:
  • Main text
  • 12929_2018_Article_474.pdf
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Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

Bmc Neurology
Lin, Chien-Heng CH; Lin, Wei-De WD; Chou, I-Ching IC; Lee, Inn-Chi IC; Fan, Hueng-Chuen HC; Hong, Syuan-Yu SY
Publication Date: 2018-09-20

Variant appearance in text: BRAF: Q257R
PubMed Link: 30236064
Variant Present in the following documents:
  • Main text
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Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.

International Journal Of Molecular Sciences
Choi, Jung-Yun JY; Han, Kyu-Min KM; Kim, Dongkyu D; Lee, Beom-Hee BH; Yoo, Han-Wook HW; Choi, Jin-Ho JH; Han, Yong-Mahn YM
Publication Date: 2017-12-01

Variant appearance in text: BRAF: Q257R
PubMed Link: 29194391
Variant Present in the following documents:
  • Main text
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Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.

Molecular Psychiatry
Yeh, E E; Dao, D Q DQ; Wu, Z Y ZY; Kandalam, S M SM; Camacho, F M FM; Tom, C C; Zhang, W W; Krencik, R R; Rauen, K A KA; Ullian, E M EM; Weiss, L A LA
Publication Date: 2018-08

Variant appearance in text: BRAF: Q257R
PubMed Link: 29158583
Variant Present in the following documents:
  • Main text
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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Bmc Medical Genomics
Xu, Shanshan S; Fan, Yanjie Y; Sun, Yu Y; Wang, Lili L; Gu, Xuefan X; Yu, Yongguo Y
Publication Date: 2017-10-30

Variant appearance in text: BRAF: Q257R; rs180177035
PubMed Link: 29084544
Variant Present in the following documents:
  • Main text
View BVdb publication page