NF1 c.4154A>G ;(p.K1385R)

Variant ID: 17-29579999-A-G

NM_001042492.2(NF1):c.4154A>G;(p.K1385R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: NF1: 4154A>G; Lys1385Arg
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 9
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: NF1: K1385R
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation
Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2022-07-01

Variant appearance in text: NF1: 4154A>G; Lys1385Arg
PubMed Link: 35775490
Variant Present in the following documents:
  • jci-132-151666-s195.xlsx, sheet 2
  • jci-132-151666-s199.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing reveals potential mechanisms of drug resistance to FGFR3-TACC3 targeted therapy and subsequent drug selection: towards a personalized medicine.

Bmc Medical Genomics
Tong, Zhou Z; Yan, Cong C; Dong, Yu-An YA; Yao, Ming M; Zhang, Hangyu H; Liu, Lulu L; Zheng, Yi Y; Zhao, Peng P; Wang, Yimin Y; Fang, Weijia W; Zhang, Feifei F; Jiang, Weiqin W
Publication Date: 2020-09-21

Variant appearance in text: NF1: 4154A>G; K1385R
PubMed Link: 32957974
Variant Present in the following documents:
  • 12920_2020_Article_794.pdf
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: NF1: 4154A>G; Lys1385Arg
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and characterization of new tumor xenografts and cancer cell lines from EBV-positive nasopharyngeal carcinoma.

Nature Communications
Lin, Weitao W; Yip, Yim Ling YL; Jia, Lin L; Deng, Wen W; Zheng, Hong H; Dai, Wei W; Ko, Josephine Mun Yee JMY; Lo, Kwok Wai KW; Chung, Grace Tin Yun GTY; Yip, Kevin Y KY; Lee, Sau-Dan SD; Kwan, Johnny Sheung-Him JS; Zhang, Jun J; Liu, Tengfei T; Chan, Jimmy Yu-Wai JY; Kwong, Dora Lai-Wan DL; Lee, Victor Ho-Fun VH; Nicholls, John Malcolm JM; Busson, Pierre P; Liu, Xuefeng X; Chiang, Alan Kwok Shing AKS; Hui, Kwai Fung KF; Kwok, Hin H; Cheung, Siu Tim ST; Cheung, Yuk Chun YC; Chan, Chi Keung CK; Li, Bin B; Cheung, Annie Lai-Man AL; Hau, Pok Man PM; Zhou, Yuan Y; Tsang, Chi Man CM; Middeldorp, Jaap J; Chen, Honglin H; Lung, Maria Li ML; Tsao, Sai Wah SW
Publication Date: 2018-11-07

Variant appearance in text: NF1: 4154A>G; Lys1385Arg
PubMed Link: 30405107
Variant Present in the following documents:
  • 41467_2018_6889_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: 4154A>G
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Synergistic effects of ion transporter and MAP kinase pathway inhibitors in melanoma.

Nature Communications
Eskiocak, Ugur U; Ramesh, Vijayashree V; Gill, Jennifer G JG; Zhao, Zhiyu Z; Yuan, Stacy W SW; Wang, Meng M; Vandergriff, Travis T; Shackleton, Mark M; Quintana, Elsa E; Johnson, Timothy M TM; DeBerardinis, Ralph J RJ; Morrison, Sean J SJ
Publication Date: 2016-08-22

Variant appearance in text: NF1: K1385R
PubMed Link: 27545456
Variant Present in the following documents:
  • ncomms12336.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: NF1: 4154A>G; K1385R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page