NF1 c.3143G>A ;(p.W1048*)

Variant ID: 17-29557889-G-A

NM_001042492.2(NF1):c.3143G>A;(p.W1048*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: NF1: 3143G>A
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: NF1: W1048*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
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: W1048*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s004.xlsx, sheet 1
View BVdb publication page



Does neoadjuvant targeted therapy provide an opportunity for resectable EGFR-mutant lung cancer: a real-world retrospective study.

Journal Of Thoracic Disease
Lv, Chao C; Ma, Yuanyuan Y; Feng, Qin Q; Lu, Fangliang F; Chi, Yongkun Y; Wu, Nan N; Fang, Jian J; Yang, Yue Y
Publication Date: 2020-10

Variant appearance in text: NF1: W1048X
PubMed Link: 33209366
Variant Present in the following documents:
  • Main text
  • jtd-12-10-5324.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: NF1: W1048*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: Trp1048Ter
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Oncotarget
Jean, Stephanie S; Li, Jiaqi J; Katsaros, Dionyssios D; Wubbenhorst, Bradley B; Maxwell, Kara N KN; Fishbein, Lauren L; McLane, Michael W MW; Benedetto, Chiara C; Canuto, Emilie Marion EM; Mitra, Nandita N; Zhang, Lin L; Nathanson, Katherine L KL; Tanyi, Janos L JL
Publication Date: 2016-07-26

Variant appearance in text: NF1: W1048X
PubMed Link: 27191893
Variant Present in the following documents:
  • oncotarget-07-48577-s002.xlsx, sheet 1
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: NF1: W1048X
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page