JAK2 c.351-4200T>A

Variant ID: 9-5040203-T-A

NM_004972.3(JAK2):c.351-4200T>A

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Association of JAK/STAT genetic variants with cutaneous melanoma.

Frontiers In Oncology
Gomez, Gabriela Vilas Bôas GVB; Lourenço, Gustavo Jacob GJ; Monteiro, Lummy Maria Oliveira LMO; Rocha, Rafael Silva RS; Fernández, Kimberly Anne McGrail KAM; Recio, Juan Angel JA; Torricelli, Caroline C; Coser, Lilian Oliveira LO; Oliveira, Alexandre Leite Rodrigues ALR; Carron, Juliana J; Moraes, Aparecida Machado AM; Lima, Carmen Silvia Passos CSP
Publication Date: 2022

Variant appearance in text: rs7043371
PubMed Link: 35982955
Variant Present in the following documents:
View BVdb publication page



Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs7043371
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
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: rs7043371
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



The influence of the CHIEF pathway on colorectal cancer-specific mortality.

Plos One
Slattery, Martha L ML; Lundgreen, Abbie A
Publication Date: 2014

Variant appearance in text: rs7043371
PubMed Link: 25541970
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: rs7043371
PubMed Link: 25526816
Variant Present in the following documents:
View BVdb publication page



Genetic variation in the JAK/STAT/SOCS signaling pathway influences breast cancer-specific mortality through interaction with cigarette smoking and use of aspirin/NSAIDs: the Breast Cancer Health Disparities Study.

Breast Cancer Research And Treatment
Slattery, Martha L ML; Lundgreen, Abbie A; Hines, Lisa M LM; Torres-Mejia, Gabriela G; Wolff, Roger K RK; Stern, Mariana C MC; John, Esther M EM
Publication Date: 2014-08

Variant appearance in text: rs7043371
PubMed Link: 25104439
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders.

Bmc Medical Genetics
Penas-Steinhardt, Alberto A; Tellechea, Mariana L ML; Gomez-Rosso, Leonardo L; Brites, Fernando F; Frechtel, Gustavo D GD; Poskus, Edgardo E
Publication Date: 2011-12-20

Variant appearance in text: rs7043371
PubMed Link: 22185674
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-166.pdf
View BVdb publication page



JAK/STAT/SOCS-signaling pathway and colon and rectal cancer.

Molecular Carcinogenesis
Slattery, Martha L ML; Lundgreen, Abbie A; Kadlubar, Susan A SA; Bondurant, Kristina L KL; Wolff, Roger K RK
Publication Date: 2013-02

Variant appearance in text: rs7043371
PubMed Link: 22121102
Variant Present in the following documents:
  • Main text
View BVdb publication page