BRAF c.722C>T ;(p.T241M)

Variant ID: 7-140501350-G-A

NM_004333.4(BRAF):c.722C>T;(p.T241M)

This variant was identified in 36 publications

View GRCh38 version.




Publications:


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: 722C>T; Thr241Met
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: T241M
PubMed Link: 36448195
Variant Present in the following documents:
  • AJMG-190-501.pdf
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: BRAF: T241M
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.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: 722C>T; Thr241Met
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Clinical associations and genetic interactions of oncogenic BRAF alleles.

Peerj
Wagner, Sebastian A SA
Publication Date: 2022

Variant appearance in text: BRAF: T241M
PubMed Link: 36275468
Variant Present in the following documents:
  • peerj-10-14126.pdf
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: BRAF: T241M
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
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: 722C>T; T241M
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.

American Journal Of Medical Genetics. Part A
Swarts, Jessie W JW; Kleimeier, Lotte E R LER; Leenders, Erika K S M EKSM; Rinne, Tuula T; Klein, Willemijn M WM; Draaisma, Jos M T JMT
Publication Date: 2022-11

Variant appearance in text: BRAF: Thr241Met
PubMed Link: 35979676
Variant Present in the following documents:
  • Main text
  • AJMG-188-3242.pdf
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: BRAF: 722C>T; Thr241Met
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 4
View BVdb publication page



KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: BRAF: T241M
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: BRAF: T241M
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine
Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C
Publication Date: 2021-10-30

Variant appearance in text: BRAF: 722C>T; Thr241Met
PubMed Link: 34716697
Variant Present in the following documents:
  • MGG3-9-e1836-s002.xlsx, sheet 1
View BVdb publication page



Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine
Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C
Publication Date: 2021-12

Variant appearance in text: BRAF: 722C>T; Thr241Met
PubMed Link: 34716697
Variant Present in the following documents:
  • MGG3-9-e1836-s002.xlsx, sheet 1
View BVdb publication page



Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica
Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS
Publication Date: 2022-08-01

Variant appearance in text: BRAF: 722C>T; Thr241Met
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
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: Thr241Met
PubMed Link: 34573299
Variant Present in the following documents:
  • Main text
  • genes-12-01316.pdf
View BVdb publication page



Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Jama Cardiology
Yoneda, Zachary T ZT; Anderson, Katherine C KC; Quintana, Joseph A JA; O'Neill, Matthew J MJ; Sims, Richard A RA; Glazer, Andrew M AM; Shaffer, Christian M CM; Crawford, Diane M DM; Stricker, Thomas T; Ye, Fei F; Wells, Quinn Q; Stevenson, Lynne W LW; Michaud, Gregory F GF; Darbar, Dawood D; Lubitz, Steven A SA; Ellinor, Patrick T PT; Roden, Dan M DM; Shoemaker, M Benjamin MB
Publication Date: 2021-12-01

Variant appearance in text: BRAF: 722C>T; Thr241Met
PubMed Link: 34495297
Variant Present in the following documents:
  • jamacardiol-e213370-s001.pdf
View BVdb publication page



Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Plos Genetics
Audain, Enrique E; Wilsdon, Anna A; Breckpot, Jeroen J; Izarzugaza, Jose M G JMG; Fitzgerald, Tomas W TW; Kahlert, Anne-Karin AK; Sifrim, Alejandro A; Wünnemann, Florian F; Perez-Riverol, Yasset Y; Abdul-Khaliq, Hashim H; Bak, Mads M; Bassett, Anne S AS; Benson, D Woodrow DW; Berger, Felix F; Daehnert, Ingo I; Devriendt, Koenraad K; Dittrich, Sven S; Daubeney, Piers Ef PE; Garg, Vidu V; Hackmann, Karl K; Hoff, Kirstin K; Hofmann, Philipp P; Dombrowsky, Gregor G; Pickardt, Thomas T; Bauer, Ulrike U; Keavney, Bernard D BD; Klaassen, Sabine S; Kramer, Hans-Heiner HH; Marshall, Christian R CR; Milewicz, Dianna M DM; Lemaire, Scott S; Coselli, Joseph S JS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A; Prakash, Siddharth K SK; Stamm, Karl K; Stewart, Alexandre F R AFR; Silversides, Candice K CK; Siebert, Reiner R; Stiller, Brigitte B; Rosenfeld, Jill A JA; Vater, Inga I; Postma, Alex V AV; Caliebe, Almuth A; Brook, J David JD; Andelfinger, Gregor G; Hurles, Matthew E ME; Thienpont, Bernard B; Larsen, Lars Allan LA; Hitz, Marc-Phillip MP
Publication Date: 2021-07

Variant appearance in text: BRAF: 722C>T; Thr241Met
PubMed Link: 34324492
Variant Present in the following documents:
  • pgen.1009679.s019.xlsx, sheet 3
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: BRAF: T241M
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 8
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: 722C>T; T241M
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of RAS Dependency for BRAF Alterations Using Cancer Genomic Databases.

Jama Network Open
Zhao, Yiqing Y; Yu, Hanzhong H; Ida, Cris M CM; Halling, Kevin C KC; Kipp, Benjamin R BR; Geiersbach, Katherine K; Rumilla, Kandelaria M KM; Gupta, Sounak S; Lin, Ming-Tseh MT; Zheng, Gang G
Publication Date: 2021-01-04

Variant appearance in text: BRAF: T241M
PubMed Link: 33507258
Variant Present in the following documents:
  • jamanetwopen-e2035479-s001.pdf
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: 722C>T; Thr241Met
PubMed Link: 33004838
Variant Present in the following documents:
  • 41467_2020_18723_MOESM7_ESM.xlsx, sheet 1
  • 41467_2020_18723_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: BRAF: T241M
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Genome Medicine
Sevim Bayrak, Cigdem C; Zhang, Peng P; Tristani-Firouzi, Martin M; Gelb, Bruce D BD; Itan, Yuval Y
Publication Date: 2020-01-15

Variant appearance in text: BRAF: T241M
PubMed Link: 31941532
Variant Present in the following documents:
  • 13073_2019_709_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.

Gastroenterology
Fischer, Catherine G CG; Beleva Guthrie, Violeta V; Braxton, Alicia M AM; Zheng, Lily L; Wang, Pei P; Song, Qianqian Q; Griffin, James F JF; Chianchiano, Peter E PE; Hosoda, Waki W; Niknafs, Noushin N; Springer, Simeon S; Dal Molin, Marco M; Masica, David D; Scharpf, Robert B RB; Thompson, Elizabeth D ED; He, Jin J; Wolfgang, Christopher L CL; Hruban, Ralph H RH; Roberts, Nicholas J NJ; Lennon, Anne Marie AM; Jiao, Yuchen Y; Karchin, Rachel R; Wood, Laura D LD
Publication Date: 2019-10

Variant appearance in text: BRAF: T241M
PubMed Link: 31175866
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.

Nature Communications
Yang, Minjun M; Vesterlund, Mattias M; Siavelis, Ioannis I; Moura-Castro, Larissa H LH; Castor, Anders A; Fioretos, Thoas T; Jafari, Rozbeh R; Lilljebjörn, Henrik H; Odom, Duncan T DT; Olsson, Linda L; Ravi, Naveen N; Woodward, Eleanor L EL; Harewood, Louise L; Lehtiö, Janne J; Paulsson, Kajsa K
Publication Date: 2019-04-03

Variant appearance in text: BRAF: T241M
PubMed Link: 30944321
Variant Present in the following documents:
  • 41467_2019_9469_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: 722C>T; Thr241Met
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: BRAF: Thr241Met
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Plos Genetics
Hänninen, Ulrika A UA; Katainen, Riku R; Tanskanen, Tomas T; Plaketti, Roosa-Maria RM; Laine, Riku R; Hamberg, Jiri J; Ristimäki, Ari A; Pukkala, Eero E; Taipale, Minna M; Mecklin, Jukka-Pekka JP; Forsström, Linda M LM; Pitkänen, Esa E; Palin, Kimmo K; Välimäki, Niko N; Mäkinen, Netta N; Aaltonen, Lauri A LA
Publication Date: 2018-03

Variant appearance in text: BRAF: T241M
PubMed Link: 29522538
Variant Present in the following documents:
  • Main text
  • pgen.1007200.pdf
View BVdb publication page



Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
Publication Date: 2017-11

Variant appearance in text: BRAF: T241M
PubMed Link: 28991257
Variant Present in the following documents:
  • NIHMS906719-supplement-supp_datasets.xlsx, sheet 9
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRAF: 722C>T; Thr241Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications
Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ
Publication Date: 2017-05-11

Variant appearance in text: BRAF: 722C>T; rs387906660
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Genetic variants in thyroid cancer distant metastases.

Endocrine-Related Cancer
Justiniano, Steven E SE; McElroy, Joseph P JP; Yu, Lianbo L; Yilmaz, Ayse Selen AS; Coombes, Kevin R KR; Senter, Leigha L; Nagy, Rebecca R; Wakely, Paul P; Volinia, Stefano S; Vinco, Michelle M; Giordano, Thomas J TJ; Croce, Carlo M CM; Saji, Motoyasu M; Ringel, Matthew D MD
Publication Date: 2016-10

Variant appearance in text: BRAF: T241M
PubMed Link: 27542854
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.

Advances In Bioinformatics
Hassan, Mohamed M MM; Omer, Shaza E SE; Khalf-Allah, Rahma M RM; Mustafa, Razaz Y RY; Ali, Isra S IS; Mohamed, Sofia B SB
Publication Date: 2016

Variant appearance in text: BRAF: T241M; rs387906660
PubMed Link: 27478437
Variant Present in the following documents:
  • Main text
  • ABI2016-2632917.pdf
View BVdb publication page



Intratumoral KIT mutational heterogeneity and recurrent KIT/ PDGFRA mutations in KIT/PDGFRA wild-type gastrointestinal stromal tumors.

Oncotarget
Gao, Jing J; Li, Jian J; Li, Yanyan Y; Li, Zhongwu Z; Gong, Jifang J; Wu, Jian J; Liu, Na N; Dong, Bin B; Qi, Changsong C; Li, Jie J; Shen, Lin L
Publication Date: 2016-05-24

Variant appearance in text: BRAF: 722C>T; T241M
PubMed Link: 26848617
Variant Present in the following documents:
  • oncotarget-07-30241-s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: BRAF: T241M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



BRAF gene: From human cancers to developmental syndromes.

Saudi Journal Of Biological Sciences
Hussain, Muhammad Ramzan Manwar MR; Baig, Mukhtiar M; Mohamoud, Hussein Sheik Ali HS; Ulhaq, Zaheer Z; Hoessli, Daniel C DC; Khogeer, Ghaidaa Siraj GS; Al-Sayed, Ranem Radwan RR; Al-Aama, Jumana Yousuf JY
Publication Date: 2015-07

Variant appearance in text: BRAF: T241M
PubMed Link: 26150740
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06

Variant appearance in text: BRAF: T241M
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Human Mutation
Sarkozy, Anna A; Carta, Claudio C; Moretti, Sonia S; Zampino, Giuseppe G; Digilio, Maria C MC; Pantaleoni, Francesca F; Scioletti, Anna Paola AP; Esposito, Giorgia G; Cordeddu, Viviana V; Lepri, Francesca F; Petrangeli, Valentina V; Dentici, Maria L ML; Mancini, Grazia M S GM; Selicorni, Angelo A; Rossi, Cesare C; Mazzanti, Laura L; Marino, Bruno B; Ferrero, Giovanni B GB; Silengo, Margherita Cirillo MC; Memo, Luigi L; Stanzial, Franco F; Faravelli, Francesca F; Stuppia, Liborio L; Puxeddu, Efisio E; Gelb, Bruce D BD; Dallapiccola, Bruno B; Tartaglia, Marco M
Publication Date: 2009-04

Variant appearance in text: BRAF: 722C>T; Thr241Met
PubMed Link: 19206169
Variant Present in the following documents:
  • Main text
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