NF1 c.626A>T ;(p.Q209L)

Variant ID: 17-29508479-A-T

NM_001042492.2(NF1):c.626A>T;(p.Q209L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: NF1: Q209L
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 12
View BVdb publication page



Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies.

Frontiers In Oncology
Scatena, Cristian C; Murtas, Daniela D; Tomei, Sara S
Publication Date: 2021

Variant appearance in text: NF1: Q209L
PubMed Link: 34123788
Variant Present in the following documents:
  • fonc-11-635488.pdf
View BVdb publication page



Oncologist uptake of comprehensive genomic profile guided targeted therapy.

Oncotarget
Nesline, Mary K MK; DePietro, Paul P; Dy, Grace K GK; Early, Amy A; Papanicolau-Sengos, Antonios A; Conroy, Jeffrey M JM; Lenzo, Felicia L FL; Glenn, Sean T ST; Chen, Hongbin H; Grand'Maison, Anne A; Boland, Patrick P; Ernstoff, Marc S MS; Puzanov, Igor I; Edge, Stephen S; Akers, Stacey S; Opyrchal, Mateusz M; Chatta, Gurkamal G; Odunsi, Kunle K; Frederick, Peter P; Lele, Shashikant S; Gardner, Mark M; Morrison, Carl C
Publication Date: 2019-07-23

Variant appearance in text: NF1: 626A>T; Q209L
PubMed Link: 31384390
Variant Present in the following documents:
  • oncotarget-10-4616-s003.xlsx, sheet 1
View BVdb publication page



A novel anti-melanoma SRC-family kinase inhibitor.

Oncotarget
Halaban, Ruth R; Bacchiocchi, Antonella A; Straub, Robert R; Cao, Jian J; Sznol, Mario M; Narayan, Deepak D; Allam, Ahmed A; Krauthammer, Michael M; Mansour, Tarek S TS
Publication Date: 2019-03-19

Variant appearance in text: NF1: Q209L
PubMed Link: 31040916
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

Nature Communications
Gellert, Pascal P; Segal, Corrinne V CV; Gao, Qiong Q; López-Knowles, Elena E; Martin, Lesley-Ann LA; Dodson, Andrew A; Li, Tiandao T; Miller, Christopher A CA; Lu, Charles C; Mardis, Elaine R ER; Gillman, Alexa A; Morden, James J; Graf, Manuela M; Sidhu, Kally K; Evans, Abigail A; Shere, Michael M; Holcombe, Christopher C; McIntosh, Stuart A SA; Bundred, Nigel N; Skene, Anthony A; Maxwell, William W; Robertson, John J; Bliss, Judith M JM; Smith, Ian I; Dowsett, Mitch M; ,
Publication Date: 2016-11-09

Variant appearance in text: NF1: Q209L
PubMed Link: 27827358
Variant Present in the following documents:
  • ncomms13294-s3.xlsx, sheet 1
View BVdb publication page