BRAF c.1695T>A ;(p.D565E)

Variant ID: 7-140454033-A-T

NM_004333.4(BRAF):c.1695T>A;(p.D565E)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Frontiers In Oncology
Guan, Tao T; Zhang, Min M; Liu, Xiaolan X; Li, Jing J; Xin, Beibei B; Ren, Yanxin Y; Yang, Yuchao Y; Wang, Hui H; Zhao, Mengjing M; Huang, Yunpeng Y; Guo, Xiaojing X; Du, Jun J; Qian, Wenbin W; Su, Liping L
Publication Date: 2022

Variant appearance in text: BRAF: D565E
PubMed Link: 36465410
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 4
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: D565E
PubMed Link: 36448195
Variant Present in the following documents:
  • AJMG-190-501.pdf
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: BRAF: D565E
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s002.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: Asp565Glu
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: D565E
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.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: D565E
PubMed Link: 28404629
Variant Present in the following documents:
  • supp_31.6.537_Supplemental_Materials.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: D565E
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: BRAF: D565E
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 4
View BVdb publication page