WNK1 c.1994C>G ;(p.T665R)

Variant ID: 12-971291-C-G

NM_018979.3(WNK1):c.1994C>G;(p.T665R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2286007
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



iFunMed: Integrative functional mediation analysis of GWAS and eQTL studies.

Genetic Epidemiology
Rojo, Constanza C; Zhang, Qi Q; Keleş, Sündüz S
Publication Date: 2019-10

Variant appearance in text: rs2286007
PubMed Link: 31328826
Variant Present in the following documents:
  • Main text
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2286007
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Sodium sensitivity of blood pressure in Chinese populations.

Journal Of Human Hypertension
Liu, Yang Y; Shi, Mengyao M; Dolan, Jacquelyn J; He, Jiang J
Publication Date: 2020-02

Variant appearance in text: rs2286007
PubMed Link: 30631129
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2286007
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs2286007
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs2286007
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One
Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y
Publication Date: 2014

Variant appearance in text: rs2286007
PubMed Link: 24637876
Variant Present in the following documents:
  • pone.0091598.s006.pdf
View BVdb publication page



Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion.

Plos One
Newhouse, Stephen S; Farrall, Martin M; Wallace, Chris C; Hoti, Mimoza M; Burke, Beverley B; Howard, Philip P; Onipinla, Abiodun A; Lee, Kate K; Shaw-Hawkins, Sue S; Dobson, Richard R; Brown, Morris M; Samani, Nilesh J NJ; Dominiczak, Anna F AF; Connell, John M JM; Lathrop, G Mark GM; Kooner, Jaspal J; Chambers, John J; Elliott, Paul P; Clarke, Robert R; Collins, Rory R; Laan, Maris M; Org, Elin E; Juhanson, Peeter P; Veldre, Gudrun G; Viigimaa, Margus M; Eyheramendy, Susana S; Cappuccio, Francesco P FP; Ji, Chen C; Iacone, Roberto R; Strazzullo, Pasquale P; Kumari, Meena M; Marmot, Michael M; Brunner, Eric E; Caulfield, Mark M; Munroe, Patricia B PB
Publication Date: 2009

Variant appearance in text: rs2286007
PubMed Link: 19347040
Variant Present in the following documents:
  • Main text
  • pone.0005003.pdf
View BVdb publication page