NF1 c.1797G>A ;(p.W599*)

Variant ID: 17-29550537-G-A

NM_001042492.2(NF1):c.1797G>A;(p.W599*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Preclinical development and evaluation of nanobody-based CD70-specific CAR T cells for the treatment of acute myeloid leukemia.

Cancer Immunology, Immunotherapy : Cii
Cheng, Jiali J; Ge, Tong T; Zhu, Xiaojian X; Wang, Jue J; Zeng, Yuhao Y; Mu, Wei W; Cai, Haodong H; Dai, Zhenyu Z; Jin, Jin J; Yang, Yongkun Y; Hu, Guang G; Mao, Xia X; Zhou, Jianfeng J; Zhu, Li L; Huang, Liang L
Publication Date: 2023-03-17

Variant appearance in text: NF1: W599X
PubMed Link: 36932256
Variant Present in the following documents:
  • 262_2023_3422_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: 1797G>A; Trp599Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Neurologia Medico-Chirurgica
Higa, Nayuta N; Akahane, Toshiaki T; Yokoyama, Seiya S; Yonezawa, Hajime H; Uchida, Hiroyuki H; Fujio, Shingo S; Kirishima, Mari M; Takigawa, Kosuke K; Hata, Nobuhiro N; Toh, Keita K; Yamamoto, Junkoh J; Hanaya, Ryosuke R; Tanimoto, Akihide A; Yoshimoto, Koji K
Publication Date: 2022-09-15

Variant appearance in text: NF1: W599*
PubMed Link: 36031351
Variant Present in the following documents:
  • 1349-8029-62-0391-s001.pdf
View BVdb publication page



Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: NF1: W599X
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 2
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NF1: W599*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics
Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH
Publication Date: 2017-10

Variant appearance in text: NF1: 1797G>A; W599X
PubMed Link: 28955729
Variant Present in the following documents:
  • supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: Trp599X
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page



Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

European Journal Of Human Genetics : Ejhg
Thomas, Laura L; Spurlock, Gill G; Eudall, Claire C; Thomas, Nick S NS; Mort, Matthew M; Hamby, Stephen E SE; Chuzhanova, Nadia N; Brems, Hilde H; Legius, Eric E; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2012-04

Variant appearance in text: NF1: 1797G>A; W599X
PubMed Link: 22108604
Variant Present in the following documents:
  • Main text
View BVdb publication page