JAK2 c.-25-16929A>T

Variant ID: 9-5005034-A-T

NM_004972.3(JAK2):c.-25-16929A>T

This variant was identified in 5 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: rs59384377
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs59384377
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Aetiology of Myeloproliferative Neoplasms.

Cancers
McMullin, Mary Frances MF; Anderson, Lesley Ann LA
Publication Date: 2020-07-06

Variant appearance in text: rs59384377
PubMed Link: 32640679
Variant Present in the following documents:
  • Main text
  • cancers-12-01810.pdf
View BVdb publication page



Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; Handsaker, Robert E RE; Finucane, Hilary K HK; Reshef, Yakir A YA; Palamara, Pier Francesco PF; Birmann, Brenda M BM; Talkowski, Michael E ME; Bakhoum, Samuel F SF; McCarroll, Steven A SA; Price, Alkes L AL
Publication Date: 2018-07

Variant appearance in text: rs59384377
PubMed Link: 29995854
Variant Present in the following documents:
  • NIHMS968664-supplement-Supplementary_Notes_and_Tables.pdf
View BVdb publication page



Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.

Blood
Hinds, David A DA; Barnholt, Kimberly E KE; Mesa, Ruben A RA; Kiefer, Amy K AK; Do, Chuong B CB; Eriksson, Nicholas N; Mountain, Joanna L JL; Francke, Uta U; Tung, Joyce Y JY; Nguyen, Huong Marie HM; Zhang, Haiyu H; Gojenola, Linda L; Zehnder, James L JL; Gotlib, Jason J
Publication Date: 2016-08-25

Variant appearance in text: rs59384377
PubMed Link: 27365426
Variant Present in the following documents:
  • Main text
View BVdb publication page