JAK2 c.226+594C>T

Variant ID: 9-5022807-C-T

NM_004972.3(JAK2):c.226+594C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.

Nature Communications
Brown, Derek W DW; Zhou, Weiyin W; Wang, Youjin Y; Jones, Kristine K; Luo, Wen W; Dagnall, Casey C; Teshome, Kedest K; Klein, Alyssa A; Zhang, Tongwu T; Lin, Shu-Hong SH; Lee, Olivia W OW; Khan, Sairah S; Vo, Jacqueline B JB; Hutchinson, Amy A; Liu, Jia J; Wang, Jiahui J; Zhu, Bin B; Hicks, Belynda B; Martin, Andrew St AS; Spellman, Stephen R SR; Wang, Tao T; Deeg, H Joachim HJ; Gupta, Vikas V; Lee, Stephanie J SJ; Freedman, Neal D ND; Yeager, Meredith M; Chanock, Stephen J SJ; Savage, Sharon A SA; Saber, Wael W; Gadalla, Shahinaz M SM; Machiela, Mitchell J MJ
Publication Date: 2022-09-08

Variant appearance in text: rs7851556
PubMed Link: 36075929
Variant Present in the following documents:
  • Main text
  • 41467_2022_32986_MOESM2_ESM.pdf
  • 41467_2022_32986_MOESM1_ESM.pdf
  • 41467_2022_Article_32986.pdf
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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: rs7851556
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study.

Bmc Genetics
Koh, Su Pin SP; Yip, Shea Ping SP; Lee, Kwok Kuen KK; Chan, Chi Chung CC; Lau, Sze Man SM; Kho, Chi Shan CS; Lau, Chi Kuen CK; Lin, Shek Ying SY; Lau, Yat Ming YM; Wong, Lap Gate LG; Au, Ka Leung KL; Wong, Kit Fai KF; Chu, Raymond W RW; Yu, Pui Hung PH; Chow, Eudora Y D EY; Leung, Kate F S KF; Tsoi, Wai Chiu WC; Yung, Benjamin Y M BY
Publication Date: 2014-12-20

Variant appearance in text: rs7851556
PubMed Link: 25526816
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_147.pdf
View BVdb publication page



Convergent mechanisms of somatic mutations in polycythemia vera.

Discovery Medicine
Wang, Kai K; Swierczek, Sabina S; Hickman, Kimberly K; Hakonarson, Hakon H; Prchal, Josef T JT
Publication Date: 2011-07

Variant appearance in text: rs7851556
PubMed Link: 21794206
Variant Present in the following documents:
  • Main text
View BVdb publication page