NF1 c.4183C>T ;(p.Q1395*)

Variant ID: 17-29585371-C-T

NM_001042492.2(NF1):c.4183C>T;(p.Q1395*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology
Georgoulias, George G; Zaravinos, Apostolos A
Publication Date: 2022

Variant appearance in text: NF1: Q1395*
PubMed Link: 36389735
Variant Present in the following documents:
  • Table_7.xlsx, sheet 10
View BVdb publication page



Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: NF1: Q1395*
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s006.xlsx, sheet 2
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Primary multiple angiosarcoma of vertebra: A case report.

Medicine
Huang, Wei W; Liu, Tao T; Duan, Ruimeng R; Yuan, Yashuai Y; Qu, Mingjia M; Zhang, Meng M; Shang, Depeng D; Yu, Xiaobing X
Publication Date: 2020-12-11

Variant appearance in text: NF1: 4183C>T; Gln1395X
PubMed Link: 33327321
Variant Present in the following documents:
  • Main text
  • medi-99-e23587.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: NF1: 4183C>T; Q1395*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: NF1: 4183C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
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: 4183C>T; Q1395*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: NF1: 4183C>T; Q1395*
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page