NF1 c.1453G>T ;(p.E485*)

Variant ID: 17-29541529-G-T

NM_001042492.2(NF1):c.1453G>T;(p.E485*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: NF1: 1453G>T; E485*
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing identifies somatic mutations in novel driver genes in non-small cell lung cancer.

Aging
Zhang, Manman M; Zhang, Lele L; Li, Yan Y; Sun, Feng F; Fang, Ya Y; Zhang, Ruijia R; Wu, Jin J; Zhou, Guanbiao G; Song, Huaidong H; Xue, Liqiong L; Han, Bing B; Zheng, Cuixia C
Publication Date: 2020-07-06

Variant appearance in text: NF1: E485X
PubMed Link: 32629428
Variant Present in the following documents:
  • aging-12-103500-s002..xlsx, sheet 1
View BVdb publication page



A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.

Blood Cancer Journal
Gasparini, Vanessa Rebecca VR; Binatti, Andrea A; Coppe, Alessandro A; Teramo, Antonella A; Vicenzetto, Cristina C; Calabretto, Giulia G; BarilĂ , Gregorio G; Barizza, Annica A; Giussani, Edoardo E; Facco, Monica M; Mustjoki, Satu S; Semenzato, Gianpietro G; Zambello, Renato R; Bortoluzzi, Stefania S
Publication Date: 2020-04-22

Variant appearance in text: NF1: Glu485*
PubMed Link: 32321919
Variant Present in the following documents:
  • 41408_2020_309_MOESM4_ESM.pdf
View BVdb publication page



Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21

Variant appearance in text: NF1: 1453G>T; Glu485*
PubMed Link: 31766501
Variant Present in the following documents:
  • Main text
  • cancers-11-01838.pdf
View BVdb publication page