NF1 c.3749G>A ;(p.R1250Q)

Variant ID: 17-29562669-G-A

NM_001042492.2(NF1):c.3749G>A;(p.R1250Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Improved Treatment Outcomes by Using Patient Specific Drug Combinations in Mammalian Target of Rapamycin Activated Advanced Metastatic Cancers.

Frontiers In Pharmacology
Crook, Timothy T; Patil, Darshana D; Gaya, Andrew A; Plowman, Nicholas N; Limaye, Sewanti S; Ranade, Anantbhushan A; Bhatt, Amit A; Page, Raymond R; Akolkar, Dadasaheb D
Publication Date: 2021

Variant appearance in text: NF1: R1250Q
PubMed Link: 33935721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer
Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L
Publication Date: 2021-02-23

Variant appearance in text: NF1: 3749G>A; Arg1250Gln
PubMed Link: 33622313
Variant Present in the following documents:
  • 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4
  • 12943_2021_1331_MOESM3_ESM.xlsx, sheet 8
View BVdb publication page



Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine
Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ
Publication Date: 2020-10

Variant appearance in text: NF1: R1250Q
PubMed Link: 33001984
Variant Present in the following documents:
  • pmed.1003363.s013.xlsx, sheet 1
View BVdb publication page



Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR.

Cell Reports
Yan, Wupeng W; Markegard, Evan E; Dharmaiah, Srisathiyanarayanan S; Urisman, Anatoly A; Drew, Matthew M; Esposito, Dominic D; Scheffzek, Klaus K; Nissley, Dwight V DV; McCormick, Frank F; Simanshu, Dhirendra K DK
Publication Date: 2020-07-21

Variant appearance in text: NF1: R1250Q
PubMed Link: 32697994
Variant Present in the following documents:
  • Main text
  • nihms-1613940.pdf
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: NF1: 3749G>A; R1250Q
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs199474765
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page