NF1 c.4030G>T ;(p.E1344*)

Variant ID: 17-29576057-G-T

NM_001042492.2(NF1):c.4030G>T;(p.E1344*)

This variant was identified in 7 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: 4030G>T; Glu1344Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.

Jto Clinical And Research Reports
Chen, Hui-Zi HZ; Bonneville, Russell R; Paruchuri, Anoosha A; Reeser, Julie W JW; Wing, Michele R MR; Samorodnitsky, Eric E; Krook, Melanie A MA; Smith, Amy M AM; Dao, Thuy T; Miya, Jharna J; Wang, Walter W; Yu, Lianbo L; Freud, Aharon G AG; Allenby, Patricia P; Cole, Sharon S; Otterson, Gregory G; Shields, Peter P; Carbone, David P DP; Roychowdhury, Sameek S
Publication Date: 2021-04

Variant appearance in text: NF1: E1344X
PubMed Link: 34590014
Variant Present in the following documents:
  • mmc7.xlsx, sheet 7
  • mmc7.xlsx, sheet 5
View BVdb publication page



Malignant Phyllodes Tumor of the Breast: A Practice Review.

Clinics And Practice
Fede, Ângelo Bezerra de Souza ÂBS; Pereira Souza, Ronaldo R; Doi, Mauricio M; De Brot, Marina M; Aparecida Bueno de Toledo Osorio, Cynthia C; Rocha Melo Gondim, Guilherme G; Casali-da-Rocha, Jose Claudio JC; Jbili, Rima R; Bitencourt, Almir Galvao Vieira AGV; Alves de Souza, Juliana J; Caparica Bitton, Rafael R; Baroni Alves Makdissi, Fabiana F; Moraes Sanches, Solange S
Publication Date: 2021-04-06

Variant appearance in text: NF1: E1344*
PubMed Link: 33917271
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: NF1: E1344*
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NF1: 4030G>T; E1344*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_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: Glu1344Ter
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



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: NF1: E1344*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page