JAK2 c.1576T>A ;(p.L526I)

Variant ID: 9-5069987-T-A

NM_004972.3(JAK2):c.1576T>A;(p.L526I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: JAK2: 1576T>A; Leu526Ile
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 9
  • bty518_supplementary_data_s6.xlsx, sheet 9
View BVdb publication page



Growth Hormone Receptor Mutations Related to Individual Dwarfism.

International Journal Of Molecular Sciences
Lin, Shudai S; Li, Congjun C; Li, Charles C; Zhang, Xiquan X
Publication Date: 2018-05-10

Variant appearance in text: JAK2: L526I
PubMed Link: 29748515
Variant Present in the following documents:
  • Main text
  • ijms-19-01433.pdf
View BVdb publication page