NF1 c.5608C>T ;(p.R1870W)

Variant ID: 17-29654856-C-T

NM_001042492.2(NF1):c.5608C>T;(p.R1870W)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: NF1: 5608C>T; Gln1870Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology
Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H
Publication Date: 2022

Variant appearance in text: NF1: 5608C>T; Arg1870Trp
PubMed Link: 36425562
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06

Variant appearance in text: NF1: 5608C>T; Arg1870Trp
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: NF1: R1870W
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Genome analysis of peeling archival cytology samples detects driver mutations in lung cancer.

Cancer Medicine
Kunimasa, Kei K; Hirotsu, Yosuke Y; Amemiya, Kenji K; Nagakubo, Yuki Y; Goto, Taichiro T; Miyashita, Yoshihiro Y; Kakizaki, Yumiko Y; Tsutsui, Toshiharu T; Otake, Sotaro S; Kobayashi, Hiroaki H; Higuchi, Rumi R; Inomata, Kie K; Kumagai, Takashi T; Mochizuki, Hitoshi H; Nakamura, Harumi H; Nakatsuka, Shin-Ichi SI; Nishino, Kazumi K; Imamura, Fumio F; Kumagai, Toru T; Oyama, Toshio T; Omata, Masao M
Publication Date: 2020-07

Variant appearance in text: NF1: R1870W
PubMed Link: 32351019
Variant Present in the following documents:
  • Main text
  • CAM4-9-4501.pdf
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: NF1: R1870W
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer
Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E
Publication Date: 2018-06

Variant appearance in text: NF1: R1870W
PubMed Link: 29872146
Variant Present in the following documents:
  • 41416_2018_89_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Pseudoprogression in microsatellite instability-high colorectal cancer during treatment with combination T cell mediated immunotherapy: a case report and literature review.

Oncotarget
Chae, Young Kwang YK; Wang, Si S; Nimeiri, Halla H; Kalyan, Aparna A; Giles, Francis J FJ
Publication Date: 2017-08-22

Variant appearance in text: NF1: R1870W
PubMed Link: 28915720
Variant Present in the following documents:
  • Main text
View BVdb publication page