Bibliome.ai browser hg19
Search
About
Stats
FAQ
SLC12A3 c.625C>T ;(p.R209W)
Variant ID: 16-56904031-C-T
NM_001126108.1(
SLC12A3
):c.625C>T;(p.R209W)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: SLC12A3: R209W; rs28936388
PubMed Link:
36991000
Variant Present in the following documents:
41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page
Cation-coupled chloride cotransporters: chemical insights and disease implications.
Trends In Chemistry
Portioli, Corinne C; Ruiz Munevar, Manuel José MJ; De Vivo, Marco M; Cancedda, Laura L
Publication Date: 2021-10
Variant appearance in text: SLC12A3: R209W
PubMed Link:
34604727
Variant Present in the following documents:
Main text
View BVdb publication page
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Scientific Reports
Kondo, Atsushi A; Nagano, China C; Ishiko, Shinya S; Omori, Takashi T; Aoto, Yuya Y; Rossanti, Rini R; Sakakibara, Nana N; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Nagai, Sadayuki S; Okada, Eri E; Shima, Yuko Y; Nakanishi, Koichi K; Ninchoji, Takeshi T; Kaito, Hiroshi H; Takeda, Hiroki H; Nagase, Hiroaki H; Morisada, Naoya N; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2021-08-09
Variant appearance in text: SLC12A3: 625C>T; Arg209Trp
PubMed Link:
34373523
Variant Present in the following documents:
41598_2021_95521_MOESM1_ESM.pdf
View BVdb publication page
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09
Variant appearance in text: SLC12A3: 625C>T; Arg209Trp; rs28936388
PubMed Link:
32355288
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
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: rs28936388
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: SLC12A3: R209W
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Spectrum of mutations in Gitelman syndrome.
Journal Of The American Society Of Nephrology : Jasn
Vargas-Poussou, Rosa R; Dahan, Karin K; Kahila, Diana D; Venisse, Annabelle A; Riveira-Munoz, Eva E; Debaix, Huguette H; Grisart, Bernard B; Bridoux, Franck F; Unwin, Robert R; Moulin, Bruno B; Haymann, Jean-Philippe JP; Vantyghem, Marie-Christine MC; Rigothier, Claire C; Dussol, Bertrand B; Godin, Michel M; Nivet, Hubert H; Dubourg, Laurence L; Tack, Ivan I; Gimenez-Roqueplo, Anne-Paule AP; Houillier, Pascal P; Blanchard, Anne A; Devuyst, Olivier O; Jeunemaitre, Xavier X
Publication Date: 2011-04
Variant appearance in text: SLC12A3: Arg209Trp; rs28936388
PubMed Link:
21415153
Variant Present in the following documents:
Main text
View BVdb publication page