NF1 c.6819+1G>A

Variant ID: 17-29665158-G-A

NM_001042492.2(NF1):c.6819+1G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 6819+1G>A
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
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: 6819+1G>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



Racial Disparities in the Molecular Landscape of Cancer.

Anticancer Research
Heath, Elisabeth I EI; Lynce, Filipa F; Xiu, Joanne J; Ellerbrock, Angela A; Reddy, Sandeep K SK; Obeid, Elias E; Liu, Stephen V SV; Bollig-Fischer, Aliccia A; Separovic, Duska D; Vanderwalde, Ari A
Publication Date: 2018-04

Variant appearance in text: NF1: 6819+1G>A
PubMed Link: 29599344
Variant Present in the following documents:
  • Main text
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: 6819+1G>A
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

Nature Genetics
Krauthammer, Michael M; Kong, Yong Y; Bacchiocchi, Antonella A; Evans, Perry P; Pornputtapong, Natapol N; Wu, Cen C; McCusker, James P JP; Ma, Shuangge S; Cheng, Elaine E; Straub, Robert R; Serin, Merdan M; Bosenberg, Marcus M; Ariyan, Stephan S; Narayan, Deepak D; Sznol, Mario M; Kluger, Harriet M HM; Mane, Shrikant S; Schlessinger, Joseph J; Lifton, Richard P RP; Halaban, Ruth R
Publication Date: 2015-09

Variant appearance in text: NF1: 6819+1G>A
PubMed Link: 26214590
Variant Present in the following documents:
  • Main text
View BVdb publication page