BRAF c.1722C>A ;(p.H574Q)

Variant ID: 7-140454006-G-T

NM_004333.4(BRAF):c.1722C>A;(p.H574Q)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01

Variant appearance in text: BRAF: His574Gln
PubMed Link: 36593066
Variant Present in the following documents:
  • jitc-2022-005937supp007.xls, sheet 1
View BVdb publication page



The mutational landscape of cancer's vulnerability to ionizing radiation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Gopal, Priyanka P; Yard, Brian D BD; Petty, Aaron A; Lal, Jessica C JC; Bera, Titas K TK; Hoang, Trung Q TQ; Buhimschi, Alexandru B AB; Abazeed, Mohamed E ME
Publication Date: 2022-10-12

Variant appearance in text: BRAF: H574Q
PubMed Link: 36222846
Variant Present in the following documents:
  • ccr-22-1914_supplementary_data_3_suppds3.xlsx, sheet 1
  • ccr-22-1914_supplementary_data_2_suppds2.xlsx, sheet 1
View BVdb publication page



Cell Painting predicts impact of lung cancer variants.

Molecular Biology Of The Cell
Caicedo, Juan C JC; Arevalo, John J; Piccioni, Federica F; Bray, Mark-Anthony MA; Hartland, Cathy L CL; Wu, Xiaoyun X; Brooks, Angela N AN; Berger, Alice H AH; Boehm, Jesse S JS; Carpenter, Anne E AE; Singh, Shantanu S
Publication Date: 2022-05-15

Variant appearance in text: BRAF: H574Q
PubMed Link: 35353015
Variant Present in the following documents:
  • Main text
  • mbc-33-ar49.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: H574Q
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



BRAF mutations may identify a clinically distinct subset of glioblastoma.

Scientific Reports
McNulty, Samantha N SN; Schwetye, Katherine E KE; Ferguson, Cole C; Storer, Chad E CE; Ansstas, George G; Kim, Albert H AH; Gutmann, David H DH; Rubin, Joshua B JB; Head, Richard D RD; Dahiya, Sonika S
Publication Date: 2021-10-08

Variant appearance in text: BRAF: H574Q
PubMed Link: 34625582
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_99278.pdf
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: BRAF: H574Q
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: BRAF: H574Q
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
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: H574Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: H574Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Clonal selection confers distinct evolutionary trajectories in BRAF-driven cancers.

Nature Communications
Gopal, Priyanka P; Sarihan, Elif Irem EI; Chie, Eui Kyu EK; Kuzmishin, Gwendolyn G; Doken, Semihcan S; Pennell, Nathan A NA; Raymond, Daniel P DP; Murthy, Sudish C SC; Ahmad, Usman U; Raja, Siva S; Almeida, Francisco F; Sethi, Sonali S; Gildea, Thomas R TR; Peacock, Craig D CD; Adams, Drew J DJ; Abazeed, Mohamed E ME
Publication Date: 2019-11-13

Variant appearance in text: BRAF: H574Q
PubMed Link: 31723142
Variant Present in the following documents:
  • 41467_2019_Article_13161.pdf
  • 41467_2019_13161_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Primary malignant melanoma of esophagus shared similar genetic characters with both cutaneous and oral mucosal melanoma.

Journal Of Thoracic Disease
Li, Jingjing J; Yan, Shi S; Wu, Nan N
Publication Date: 2018-06

Variant appearance in text: BRAF: H574Q
PubMed Link: 30023129
Variant Present in the following documents:
  • Main text
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: 1722C>A; rs397507481
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
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: rs397507481
PubMed Link: 27478437
Variant Present in the following documents:
  • ABI2016-2632917.pdf
View BVdb publication page



High-throughput Phenotyping of Lung Cancer Somatic Mutations.

Cancer Cell
Berger, Alice H AH; Brooks, Angela N AN; Wu, Xiaoyun X; Shrestha, Yashaswi Y; Chouinard, Candace C; Piccioni, Federica F; Bagul, Mukta M; Kamburov, Atanas A; Imielinski, Marcin M; Hogstrom, Larson L; Zhu, Cong C; Yang, Xiaoping X; Pantel, Sasha S; Sakai, Ryo R; Watson, Jacqueline J; Kaplan, Nathan N; Campbell, Joshua D JD; Singh, Shantanu S; Root, David E DE; Narayan, Rajiv R; Natoli, Ted T; Lahr, David L DL; Tirosh, Itay I; Tamayo, Pablo P; Getz, Gad G; Wong, Bang B; Doench, John J; Subramanian, Aravind A; Golub, Todd R TR; Meyerson, Matthew M; Boehm, Jesse S JS
Publication Date: 2016-08-08

Variant appearance in text: BRAF: H574Q
PubMed Link: 27478040
Variant Present in the following documents:
  • Main text
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: BRAF: H574Q
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s004.xlsx, sheet 1
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: H574Q
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page