JAK2 c.1776+220G>A

Variant ID: 9-5072846-G-A

NM_004972.3(JAK2):c.1776+220G>A

This variant was identified in 13 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: rs10974947
PubMed Link: 35982955
Variant Present in the following documents:
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: rs10974947
PubMed Link: 32973967
Variant Present in the following documents:
  • Main text
  • oncotarget-11-3420.pdf
View BVdb publication page



A multivariable approach for risk markers from pooled molecular data with only partial overlap.

Bmc Medical Genetics
Stelzer, Anne-Sophie AS; Maccioni, Livia L; Gerhold-Ay, Aslihan A; Smedby, Karin E KE; Schumacher, Martin M; Nieters, Alexandra A; Binder, Harald H
Publication Date: 2019-07-19

Variant appearance in text: rs10974947
PubMed Link: 31324155
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_849.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: rs10974947
PubMed Link: 27132877
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs10974947
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
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: rs10974947
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: rs10974947
PubMed Link: 25526816
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_147.pdf
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: rs10974947
PubMed Link: 25104439
Variant Present in the following documents:
  • Main text
View BVdb publication page



An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

Plos One
Landa, Iñigo I; Boullosa, Cesar C; Inglada-Pérez, Lucía L; Sastre-Perona, Ana A; Pastor, Susana S; Velázquez, Antonia A; Mancikova, Veronika V; Ruiz-Llorente, Sergio S; Schiavi, Francesca F; Marcos, Ricard R; Malats, Nuria N; Opocher, Giuseppe G; Diaz-Uriarte, Ramon R; Santisteban, Pilar P; Valencia, Alfonso A; Robledo, Mercedes M
Publication Date: 2013

Variant appearance in text: rs10974947
PubMed Link: 24086368
Variant Present in the following documents:
  • Main text
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: rs10974947
PubMed Link: 23717640
Variant Present in the following documents:
  • Main text
  • pone.0064628.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: rs10974947
PubMed Link: 22121102
Variant Present in the following documents:
  • Main text
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: rs10974947
PubMed Link: 19287382
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: rs10974947
PubMed Link: 18239666
Variant Present in the following documents:
  • Main text
View BVdb publication page