JAK2 c.-108-61A>G

Variant ID: 9-4985879-A-G

NM_004972.4(JAK2):c.-108-61A>G

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2274471
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs2274471
PubMed Link: 35982955
Variant Present in the following documents:
View BVdb publication page



Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis.

Bmc Cancer
Hoxhaj, Ilda I; Vukovic, Vladimir V; Boccia, Stefania S; Pastorino, Roberta R
Publication Date: 2021-06-02

Variant appearance in text: rs2274471
PubMed Link: 34078296
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8335.pdf
View BVdb publication page



SNPs in the interleukin-12 signaling pathway are associated with breast cancer risk in Puerto Rican women.

Oncotarget
Núñez-Marrero, Angel A; Arroyo, Nelly N; Godoy, Lenin L; Rahman, Mohammad Zillur MZ; Matta, Jaime L JL; Dutil, Julie J
Publication Date: 2020-09-15

Variant appearance in text: rs2274471
PubMed Link: 32973967
Variant Present in the following documents:
  • Main text
  • oncotarget-11-3420.pdf
View BVdb publication page



Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports
Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M
Publication Date: 2018-01-30

Variant appearance in text: rs2274471
PubMed Link: 29382849
Variant Present in the following documents:
  • 41598_2017_19017_MOESM1_ESM.pdf
View BVdb publication page



A preliminary study of new single polymorphisms in the T helper type 17 pathway for psoriasis in the Korean population.

Clinical And Experimental Immunology
Kim, S Y SY; Hur, M S MS; Choi, B G BG; Kim, M J MJ; Lee, Y W YW; Choe, Y B YB; Ahn, K J KJ
Publication Date: 2017-02

Variant appearance in text: rs2274471
PubMed Link: 27774581
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: rs2274471
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: rs2274471
PubMed Link: 25104439
Variant Present in the following documents:
  • Main text
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: rs2274471
PubMed Link: 22121102
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global assessment of genetic variation influencing response to retinoid chemoprevention in head and neck cancer patients.

Cancer Prevention Research (Philadelphia, Pa.)
Lee, J Jack JJ; Wu, Xifeng X; Hildebrandt, Michelle A T MA; Yang, Hushan H; Khuri, Fadlo R FR; Kim, Edward E; Gu, Jian J; Ye, Yuanqing Y; Lotan, Reuben R; Spitz, Margaret R MR; Hong, Waun Ki WK
Publication Date: 2011-02

Variant appearance in text: rs2274471
PubMed Link: 21292633
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of common JAK2 variants with body fat, insulin sensitivity and lipid profile.

Obesity (Silver Spring, Md.)
Ge, Dongliang D; Gooljar, Sakina B SB; Kyriakou, Theodosios T; Collins, Laura J LJ; Swaminathan, Ramasamyiyer R; Snieder, Harold H; Spector, Tim D TD; O'Dell, Sandra D SD
Publication Date: 2008-02

Variant appearance in text: rs2274471
PubMed Link: 18239666
Variant Present in the following documents:
  • Main text
View BVdb publication page