BRAF c.1914T>G ;(p.D638E)

Variant ID: 7-140449165-A-C

NM_004333.4(BRAF):c.1914T>G;(p.D638E)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome.

Frontiers In Pediatrics
Ciacchini, B B; Di Nardo, G G; Marin, M M; Borali, E E; Caraccia, M M; Mogni, R R; Cairello, F F; Rabbone, I I; Ferrero, G B GB; Pini Prato, A A; Felici, E E
Publication Date: 2023

Variant appearance in text: BRAF: 1914T>G; Asp638Glu
PubMed Link: 37138575
Variant Present in the following documents:
  • Main text
  • fped-11-1160147.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: 1914T>G; Asp638Glu
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: D638E
PubMed Link: 36448195
Variant Present in the following documents:
  • Main text
  • AJMG-190-501.pdf
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: 1914T>G; Asp638Glu
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.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: 1914T>G; D638E
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
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: 1914T>G; Asp638Glu
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
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: 1914T>G; Asp638Glu
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, 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: D638E
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: D638E
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.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: Asp638Glu
PubMed Link: 34573299
Variant Present in the following documents:
  • Main text
  • genes-12-01316.pdf
View BVdb publication page



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: D638E
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: 1914T>G; Asp638Glu
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
View BVdb publication page



Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus.

Bmj Case Reports
Lenet, Stephanie S; Polychronakos, Constantin C
Publication Date: 2019-06-18

Variant appearance in text: BRAF: D638E
PubMed Link: 31217210
Variant Present in the following documents:
  • Main text
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: 1914T>G; Asp638Glu
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: D638E
PubMed Link: 30236064
Variant Present in the following documents:
  • Main text
  • 12883_2018_Article_1157.pdf
View BVdb publication page



Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Scientific Reports
Leung, Gordon K C GKC; Luk, H M HM; Tang, Vincent H M VHM; Gao, W W WW; Mak, Christopher C Y CCY; Yu, Mullin H C MHC; Wong, W L WL; Chu, Yoyo W Y YWY; Yang, W L WL; Wong, Wilfred H S WHS; Ma, Alvin C H ACH; Leung, Anskar Y H AYH; Jin, D Y DY; Chan, Kelvin Y K KYK; Allanson, Judith J; Lo, Ivan F M IFM; Chung, Brian H Y BHY
Publication Date: 2018-02-05

Variant appearance in text: BRAF: 1914T>G; D638E
PubMed Link: 29402968
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_20894.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: 1914T>G; Asp638Glu
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: D638E
PubMed Link: 28404629
Variant Present in the following documents:
  • supp_31.6.537_Supplemental_Materials.pdf
View BVdb publication page



Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sajan, Samin A SA; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; Glaze, Daniel G DG; Kaufmann, Walter E WE; Skinner, Steven A SA; Annese, Fran F; Friez, Michael J MJ; Lane, Jane J; Percy, Alan K AK; Neul, Jeffrey L JL
Publication Date: 2017-01

Variant appearance in text: BRAF: D638E
PubMed Link: 27171548
Variant Present in the following documents:
  • Main text
  • NIHMS769804-supplement-Supplementary___Appendix__online_only_material__etc___2.xls, sheet 2
  • nihms769804.pdf
View BVdb publication page



Mutations driving CLL and their evolution in progression and relapse.

Nature
Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ
Publication Date: 2015-10-22

Variant appearance in text: BRAF: 1914T>G; D638E
PubMed Link: 26466571
Variant Present in the following documents:
  • NIHMS715090-supplement-Supplementary_Table_3.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: N/A
PubMed Link: 26206375
Variant Present in the following documents:
View BVdb publication page



RASopathies: unraveling mechanisms with animal models.

Disease Models & Mechanisms
Jindal, Granton A GA; Goyal, Yogesh Y; Burdine, Rebecca D RD; Rauen, Katherine A KA; Shvartsman, Stanislav Y SY
Publication Date: 2015-08-01

Variant appearance in text: BRAF: D638E
PubMed Link: 26203125
Variant Present in the following documents:
  • supp_8.8.769_DMM020339supp.pdf
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: N/A
PubMed Link: 26150740
Variant Present in the following documents:
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: D638E
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
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: N/A
PubMed Link: 21779504
Variant Present in the following documents:
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: 1914T>G; Asp638Glu
PubMed Link: 21063443
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Human Molecular Genetics
Anastasaki, Corina C; Estep, Anne L AL; Marais, Richard R; Rauen, Katherine A KA; Patton, E Elizabeth EE
Publication Date: 2009-07-15

Variant appearance in text: N/A
PubMed Link: 19376813
Variant Present in the following documents:
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: 1914T>G; Asp638Glu
PubMed Link: 19206169
Variant Present in the following documents:
  • Main text
View BVdb publication page