NF1 c.7354C>T ;(p.R2452C)

Variant ID: 17-29677233-C-T

NM_001042492.2(NF1):c.7354C>T;(p.R2452C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Improvements in Quality Control and Library Preparation for Targeted Sequencing Allowed Detection of Potentially Pathogenic Alterations in Circulating Cell-Free DNA Derived from Plasma of Brain Tumor Patients.

Cancers
Szadkowska, Paulina P; Roura, Adria-Jaume AJ; Wojtas, Bartosz B; Wojnicki, Kamil K; Licholai, Sabina S; Waller, Tomasz T; Gubala, Tomasz T; Zukowski, Kacper K; Karpeta, Michal M; Wilkus, Kinga K; Kaspera, Wojciech W; Nawrocki, Sergiusz S; Kaminska, Bozena B
Publication Date: 2022-08-12

Variant appearance in text: rs377662483
PubMed Link: 36010895
Variant Present in the following documents:
  • cancers-14-03902.pdf
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: NF1: 7354C>T
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



EZH2 inactivation in RAS-driven myeloid neoplasms hyperactivates RAS-signaling and increases MEK inhibitor sensitivity.

Leukemia
Berg, Johannes Lorenz JL; Perfler, Bianca B; Hatzl, Stefan S; Uhl, Barbara B; Reinisch, Andreas A; Pregartner, Gudrun G; Berghold, Andrea A; Penz, Thomas T; Schuster, Michael M; Geissler, Klaus K; Prokesch, Andreas A; Müller-Tidow, Carsten C; Hoefler, Gerald G; Kashofer, Karl K; Wölfler, Albert A; Sill, Heinz H; Caraffini, Veronica V; Zebisch, Armin A
Publication Date: 2021-05

Variant appearance in text: NF1: R2452C
PubMed Link: 33589750
Variant Present in the following documents:
  • 41375_2021_1161_MOESM1_ESM.pdf
View BVdb publication page



Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports
Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M
Publication Date: 2019-12-27

Variant appearance in text: NF1: 7354C>T; Arg2452Cys; rs377662483
PubMed Link: 31882575
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_55515.pdf
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: rs377662483
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: NF1: 7354C>T; R2452C; rs377662483
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page