BRAF c.721A>C ;(p.T241P)

Variant ID: 7-140501351-T-G

NM_004333.4(BRAF):c.721A>C;(p.T241P)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


High-risk multiple myeloma predicted by circulating plasma cells and its genetic characteristics.

Frontiers In Oncology
Xia, Yuan Y; Shen, Na N; Zhang, Run R; Wu, Yujie Y; Shi, Qinglin Q; Li, Jianyong J; Chen, Lijuan L; Xu, Min M; Jin, Yuanyuan Y
Publication Date: 2023

Variant appearance in text: rs387906661
PubMed Link: 36845679
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: 721A>C; Thr241Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: T241P
PubMed Link: 36237189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural insights into the BRAF monomer-to-dimer transition mediated by RAS binding.

Nature Communications
Martinez Fiesco, Juliana A JA; Durrant, David E DE; Morrison, Deborah K DK; Zhang, Ping P
Publication Date: 2022-01-25

Variant appearance in text: BRAF: T241P
PubMed Link: 35078985
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_28084.pdf
  • 41467_2022_28084_MOESM2_ESM.pdf
  • 41467_2022_28084_MOESM1_ESM.pdf
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Structural insights into the BRAF monomer-to-dimer transition mediated by RAS binding.

Nature Communications
Martinez Fiesco, Juliana A JA; Durrant, David E DE; Morrison, Deborah K DK; Zhang, Ping P
Publication Date: 2022-01-25

Variant appearance in text: BRAF: T241P
PubMed Link: 35078985
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_28084.pdf
  • 41467_2022_28084_MOESM2_ESM.pdf
  • 41467_2022_28084_MOESM1_ESM.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: T241P
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: Thr241Pro
PubMed Link: 34573299
Variant Present in the following documents:
  • Main text
  • genes-12-01316.pdf
View BVdb publication page



Retrospective Case Series Analysis of RAF Family Alterations in Pancreatic Cancer: Real-World Outcomes From Targeted and Standard Therapies.

Jco Precision Oncology
Hendifar, Andrew A; Blais, Edik M EM; Wolpin, Brian B; Subbiah, Vivek V; Collisson, Eric E; Singh, Isha I; Cannon, Timothy T; Shaw, Kenna K; Petricoin, Emanuel F EF; Klempner, Samuel S; Lyons, Emily E; Wang-Gillam, Andrea A; Pishvaian, Michael J MJ; O'Reilly, Eileen M EM
Publication Date: 2021

Variant appearance in text: BRAF: T241P
PubMed Link: 34476331
Variant Present in the following documents:
  • po-5-po.20.00494.pdf
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: 721A>C; T241P
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



Application of CRISPR-Cas9 gene editing for congenital heart disease.

Clinical And Experimental Pediatrics
Seok, Heeyoung H; Deng, Rui R; Cowan, Douglas B DB; Wang, Da-Zhi DZ
Publication Date: 2021-06

Variant appearance in text: BRAF: Thr241Pro
PubMed Link: 33677855
Variant Present in the following documents:
  • Main text
  • cep-2020-02096.pdf
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: T241P
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: T241P
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.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: 721A>C; Thr241Pro
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: BRAF: T241P
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

Human Mutation
Grant, Andrew R AR; Cushman, Brandon J BJ; Cavé, Hélène H; Dillon, Mitchell W MW; Gelb, Bruce D BD; Gripp, Karen W KW; Lee, Jennifer A JA; Mason-Suares, Heather H; Rauen, Katherine A KA; Tartaglia, Marco M; Vincent, Lisa M LM; Zenker, Martin M
Publication Date: 2018-11

Variant appearance in text: BRAF: T241P
PubMed Link: 30311384
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: T241P
PubMed Link: 30290804
Variant Present in the following documents:
  • Main text
  • 12929_2018_Article_474.pdf
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: 721A>C; Thr241Pro
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: T241P
PubMed Link: 28404629
Variant Present in the following documents:
  • supp_31.6.537_Supplemental_Materials.pdf
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: T241P; rs387906661
PubMed Link: 27478437
Variant Present in the following documents:
  • Main text
  • ABI2016-2632917.pdf
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: T241P
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: Thr241Pro
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: T241P
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page



LEOPARD Syndrome: Clinical Features and Gene Mutations.

Molecular Syndromology
Martínez-Quintana, E E; Rodríguez-González, F F
Publication Date: 2012-10

Variant appearance in text: BRAF: Thr241Pro
PubMed Link: 23239957
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ras in cancer and developmental diseases.

Genes & Cancer
Fernández-Medarde, Alberto A; Santos, Eugenio E
Publication Date: 2011-03

Variant appearance in text: BRAF: T241P
PubMed Link: 21779504
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

European Journal Of Human Genetics : Ejhg
Kleefstra, Tjitske T; Wortmann, Saskia B SB; Rodenburg, Richard J T RJ; Bongers, Ernie M H F EM; Hadzsiev, Kinga K; Noordam, Cees C; van den Heuvel, Lambert P LP; Nillesen, Willy M WM; Hollody, Katalin K; Gillessen-Kaesbach, Gabrielle G; Lammens, Martin M; Smeitink, Jan A M JA; van der Burgt, Ineke I; Morava, Eva E
Publication Date: 2011-02

Variant appearance in text: BRAF: 721A>C
PubMed Link: 21063443
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 721A>C; Thr241Pro
PubMed Link: 19206169
Variant Present in the following documents:
  • Main text
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: T241P
PubMed Link: 17704260
Variant Present in the following documents:
  • Main text
View BVdb publication page