JAK2 c.1214+710G>C

Variant ID: 9-5065750-G-C

NM_004972.3(JAK2):c.1214+710G>C

This variant was identified in 10 publications

View GRCh38 version.




Publications:


The Contribution of JAK2 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.

International Journal Of Molecular Sciences
Paes, Jhemerson J; Silva, George A V GAV; Tarragô, Andréa M AM; Mourão, Lucivana P de Souza LPS
Publication Date: 2022-10-20

Variant appearance in text: rs12342421
PubMed Link: 36293440
Variant Present in the following documents:
  • Main text
  • ijms-23-12582.pdf
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: rs12342421
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



DES-Mutation: System for Exploring Links of Mutations and Diseases.

Scientific Reports
Kordopati, Vasiliki V; Salhi, Adil A; Razali, Rozaimi R; Radovanovic, Aleksandar A; Tifratene, Faroug F; Uludag, Mahmut M; Li, Yu Y; Bokhari, Ameerah A; AlSaieedi, Ahdab A; Bin Raies, Arwa A; Van Neste, Christophe C; Essack, Magbubah M; Bajic, Vladimir B VB
Publication Date: 2018-09-06

Variant appearance in text: rs12342421
PubMed Link: 30190574
Variant Present in the following documents:
  • 41598_2018_31439_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

International Journal Of Molecular Sciences
Anelli, Luisa L; Zagaria, Antonella A; Specchia, Giorgina G; Albano, Francesco F
Publication Date: 2018-04-11

Variant appearance in text: rs12342421
PubMed Link: 29641446
Variant Present in the following documents:
  • Main text
  • ijms-19-01152.pdf
View BVdb publication page



Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population.

Oncotarget
Chiang, Yi-Hao YH; Chang, Yu-Cheng YC; Lin, Huan-Chau HC; Huang, Ling L; Cheng, Chun-Chia CC; Wang, Wei-Ting WT; Cheng, Hung-I HI; Su, Nai-Wen NW; Chen, Caleb Gon-Shen CG; Lin, Johnson J; Chang, Yi-Fang YF; Chang, Ming-Chih MC; Hsieh, Ruey-Kuen RK; Chou, Wen-Chien WC; Lim, Ken-Hong KH; Kuo, Yuan-Yeh YY
Publication Date: 2017-09-29

Variant appearance in text: rs12342421
PubMed Link: 29100304
Variant Present in the following documents:
  • Main text
  • oncotarget-08-76204.pdf
View BVdb publication page



Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

Journal Of Clinical Laboratory Analysis
Yoo, Eun-Hyung EH; Park, Kyung-Jin KJ; Won, Hong-Hee HH; Park, Jun-Hee JH; Park, Jong-Ho JH; Lee, Seung-Tae ST; Kim, Hee-Jin HJ; Bang, Soo-Mee SM; Chi, Hyun-Sook HS; Jung, Chul Won CW; Kim, Sun-Hee SH; Yun, Hongseok H; Sun, Choong-Hyun CH; Park, Inho I; Lee, Seungmook S; Lee, Clarence C; Merriman, Barry B; Luo, Raymond R; Tan, Eileen Hwee Hong EH; Park, Keun-Joon KJ; Yoo, Na-Kyung NK; Kang, Jason J JJ; Kim, Jong-Won JW
Publication Date: 2016-11

Variant appearance in text: rs12342421
PubMed Link: 27132877
Variant Present in the following documents:
  • Main text
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: rs12342421
PubMed Link: 25526816
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_147.pdf
View BVdb publication page



JAK2V617F mRNA metabolism in myeloproliferative neoplasm cell lines.

Blood Cancer Journal
Nauroy, P P; Delhommeau, F F; Baklouti, F F
Publication Date: 2014-06-27

Variant appearance in text: rs12342421
PubMed Link: 24972151
Variant Present in the following documents:
  • Main text
  • bcj201443a.pdf
View BVdb publication page



Janus kinase 2 polymorphisms are associated with risk in patients with gastric cancer in a Chinese population.

Plos One
Yang, Li L; Liu, Dongxiao D; Liang, Song S; Guo, Renhua R; Zhang, Zhihong Z; Xu, Hao H; Yang, Chao C; Zhu, Yi Y
Publication Date: 2013

Variant appearance in text: rs12342421
PubMed Link: 23717640
Variant Present in the following documents:
  • Main text
  • pone.0064628.pdf
View BVdb publication page



JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.

Nature Genetics
Jones, Amy V AV; Chase, Andrew A; Silver, Richard T RT; Oscier, David D; Zoi, Katerina K; Wang, Y Lynn YL; Cario, Holger H; Pahl, Heike L HL; Collins, Andrew A; Reiter, Andreas A; Grand, Francis F; Cross, Nicholas C P NC
Publication Date: 2009-04

Variant appearance in text: rs12342421
PubMed Link: 19287382
Variant Present in the following documents:
  • Main text
View BVdb publication page