JAK2 c.1327-267T>G

Variant ID: 9-5068755-T-G

NM_004972.3(JAK2):c.1327-267T>G

This variant was identified in 15 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: rs3780367
PubMed Link: 36293440
Variant Present in the following documents:
  • Main text
  • ijms-23-12582.pdf
View BVdb publication page



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: rs3780367
PubMed Link: 36075929
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_32986.pdf
View BVdb publication page



JAK2 rs10974944 is associated with both V617F-positive and negative myeloproliferative neoplasms in a Vietnamese population: A potential genetic marker.

Molecular Genetics & Genomic Medicine
Ngoc, Nguyen Thy NT; Hau, Bui Bich BB; Vuong, Nguyen Ba NB; Xuan, Nguyen Thi NT
Publication Date: 2022-10

Variant appearance in text: rs3780367
PubMed Link: 35996819
Variant Present in the following documents:
  • Main text
  • MGG3-10-e2044.pdf
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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: rs3780367
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances
Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF
Publication Date: 2022-08-23

Variant appearance in text: rs3780367
PubMed Link: 35381074
Variant Present in the following documents:
  • Main text
  • advancesADV2021005648.pdf
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JAK2 Variant Signaling: Genetic, Hematologic and Immune Implication in Chronic Myeloproliferative Neoplasms.

Biomolecules
Torres, Dania G DG; Paes, Jhemerson J; da Costa, Allyson G AG; Malheiro, Adriana A; Silva, George V GV; Mourão, Lucivana P de Souza LPS; Tarragô, Andréa M AM
Publication Date: 2022-02-11

Variant appearance in text: rs3780367
PubMed Link: 35204792
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00291.pdf
View BVdb publication page



The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome.

Cells
Masselli, Elena E; Pozzi, Giulia G; Carubbi, Cecilia C; Vitale, Marco M
Publication Date: 2021-09-29

Variant appearance in text: rs3780367
PubMed Link: 34685575
Variant Present in the following documents:
  • Main text
  • cells-10-02597.pdf
View BVdb publication page



Genetics and Pathogenetic Role of Inflammasomes in Philadelphia Negative Chronic Myeloproliferative Neoplasms: A Narrative Review.

International Journal Of Molecular Sciences
Di Battista, Valeria V; Bochicchio, Maria Teresa MT; Giordano, Giulio G; Napolitano, Mariasanta M; Lucchesi, Alessandro A
Publication Date: 2021-01-08

Variant appearance in text: rs3780367
PubMed Link: 33429941
Variant Present in the following documents:
  • Main text
  • ijms-22-00561.pdf
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Cytokine Profiling in Myeloproliferative Neoplasms: Overview on Phenotype Correlation, Outcome Prediction, and Role of Genetic Variants.

Cells
Masselli, Elena E; Pozzi, Giulia G; Gobbi, Giuliana G; Merighi, Stefania S; Gessi, Stefania S; Vitale, Marco M; Carubbi, Cecilia C
Publication Date: 2020-09-21

Variant appearance in text: rs3780367
PubMed Link: 32967342
Variant Present in the following documents:
  • Main text
  • cells-09-02136.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: rs3780367
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.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: rs3780367
PubMed Link: 29641446
Variant Present in the following documents:
  • Main text
  • ijms-19-01152.pdf
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Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.

Blood
Lanikova, Lucie L; Babosova, Olga O; Swierczek, Sabina S; Wang, Linghua L; Wheeler, David A DA; Divoky, Vladimir V; Korinek, Vladimir V; Prchal, Josef T JT
Publication Date: 2016-11-03

Variant appearance in text: rs3780367
PubMed Link: 27647865
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: rs3780367
PubMed Link: 25526816
Variant Present in the following documents:
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: rs3780367
PubMed Link: 24972151
Variant Present in the following documents:
  • Main text
  • bcj201443a.pdf
View BVdb publication page



The JAK2 46/1 haplotype: a marker of inappropriate myelomonocytic response to cytokine stimulation, leading to increased risk of inflammation, myeloid neoplasm, and impaired defense against infection?

Haematologica
Hermouet, Sylvie S; Vilaine, Mathias M
Publication Date: 2011-11

Variant appearance in text: rs3780367
PubMed Link: 22058280
Variant Present in the following documents:
  • Main text
View BVdb publication page