JAK2 c.1584G>A ;(p.R528=)

Variant ID: 9-5069995-G-A

NM_004972.3(JAK2):c.1584G>A;(p.R528=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: JAK2: R528R
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.

Journal Of Cancer
Akram, Afia Muhammad AM; Kausar, Humera H; Chaudhary, Asma A; Khalid, Ahmad Mukhtar AM; Shahzad, Muhammad Mudassar MM; Akhtar, Muhammad Waheed MW; Sabar, Muhammad Farooq MF; Sajid, Nadia N; Anazi, Nawaf Al NA; Aleem, Aamer A; Iqbal, Zafar Z
Publication Date: 2018

Variant appearance in text: JAK2: R528R
PubMed Link: 30519338
Variant Present in the following documents:
  • Main text
  • jcav09p4341.pdf
View BVdb publication page