JAK2 c.1520C>A ;(p.S507*)

Variant ID: 9-5069931-C-A

NM_004972.3(JAK2):c.1520C>A;(p.S507*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell
Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J
Publication Date: 2023-04-24

Variant appearance in text: JAK2: S507X
PubMed Link: 37116492
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine
Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A
Publication Date: 2018-11

Variant appearance in text: JAK2: 1520C>A
PubMed Link: 30293248
Variant Present in the following documents:
  • MGG3-6-1041.pdf
View BVdb publication page



Genetic defects of the IRF1-mediated major histocompatibility complex class I antigen presentation pathway occur prevalently in the JAK2 gene in non-small cell lung cancer.

Oncotarget
Shen, Tao T; Chen, Zhengming Z; Zhao, Zhizhuang Joe ZJ; Wu, Jie J
Publication Date: 2017-09-22

Variant appearance in text: JAK2: S507*
PubMed Link: 28977839
Variant Present in the following documents:
  • Main text
  • oncotarget-08-60975.pdf
View BVdb publication page