PKD1 c.12682C>T ;(p.R4228*)

Variant ID: 16-2139958-G-A

NM_001009944.2(PKD1):c.12682C>T;(p.R4228*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences
Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K
Publication Date: 2023-05-10

Variant appearance in text: PKD1: R4228X
PubMed Link: 37214819
Variant Present in the following documents:
  • media-1.xlsx, sheet 3
  • media-1.xlsx, sheet 2
View BVdb publication page



A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports
Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU
Publication Date: 2023-03

Variant appearance in text: PKD1: 12682C>T; R4228*
PubMed Link: 36938073
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: PKD1: 12682C>T; Arg4228Ter; rs199476095
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Kidney International
Hopp, Katharina K; Cornec-Le Gall, Emilie E; Senum, Sarah R SR; Te Paske, Iris B A W IBAW; Raj, Sonam S; Lavu, Sravanthi S; Baheti, Saurabh S; Edwards, Marie E ME; Madsen, Charles D CD; Heyer, Christina M CM; Ong, Albert C M ACM; Bae, Kyongtae T KT; Fatica, Richard R; Steinman, Theodore I TI; Chapman, Arlene B AB; Gitomer, Berenice B; Perrone, Ronald D RD; Rahbari-Oskoui, Frederic F FF; Torres, Vicente E VE; , ; Harris, Peter C PC
Publication Date: 2020-02

Variant appearance in text: PKD1: 12682C>T; Arg4228*
PubMed Link: 31874800
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polycystin-1 Assembles With Kv Channels to Govern Cardiomyocyte Repolarization and Contractility.

Circulation
Altamirano, Francisco F; Schiattarella, Gabriele G GG; French, Kristin M KM; Kim, Soo Young SY; Engelberger, Felipe F; Kyrychenko, Sergii S; Villalobos, Elisa E; Tong, Dan D; Schneider, Jay W JW; Ramirez-Sarmiento, Cesar A CA; Lavandero, Sergio S; Gillette, Thomas G TG; Hill, Joseph A JA
Publication Date: 2019-09-10

Variant appearance in text: PKD1: R4228X
PubMed Link: 31220931
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mallawaarachchi, Amali C AC; Furlong, Timothy J TJ; Shine, John J; Harris, Peter C PC; Cowley, Mark J MJ
Publication Date: 2019-06

Variant appearance in text: PKD1: 12682C>T; Arg4228Ter
PubMed Link: 30369598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics
He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J
Publication Date: 2018-10-17

Variant appearance in text: PKD1: 12682C>T; Arg4228*
PubMed Link: 30333007
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_693.pdf
View BVdb publication page



Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports
Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2015-12-03

Variant appearance in text: PKD1: Arg4228Ter
PubMed Link: 26632257
Variant Present in the following documents:
  • Main text
  • srep17468.pdf
View BVdb publication page



Altered trafficking and stability of polycystins underlie polycystic kidney disease.

The Journal Of Clinical Investigation
Cai, Yiqiang Y; Fedeles, Sorin V SV; Dong, Ke K; Anyatonwu, Georgia G; Onoe, Tamehito T; Mitobe, Michihiro M; Gao, Jian-Dong JD; Okuhara, Dayne D; Tian, Xin X; Gallagher, Anna-Rachel AR; Tang, Zhangui Z; Xie, Xiaoli X; Lalioti, Maria D MD; Lee, Ann-Hwee AH; Ehrlich, Barbara E BE; Somlo, Stefan S
Publication Date: 2014-12

Variant appearance in text: PKD1: R4228X
PubMed Link: 25365220
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polycystic liver diseases: advanced insights into the molecular mechanisms.

Nature Reviews. Gastroenterology & Hepatology
Perugorria, Maria J MJ; Masyuk, Tatyana V TV; Marin, Jose J JJ; Marzioni, Marco M; Bujanda, Luis L; LaRusso, Nicholas F NF; Banales, Jesus M JM
Publication Date: 2014-12

Variant appearance in text: PKD1: 12682C>T; Arg4228Ter
PubMed Link: 25266109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.

Kidney International
Paul, Binu M BM; Consugar, Mark B MB; Ryan Lee, Moonnoh M; Sundsbak, Jamie L JL; Heyer, Christina M CM; Rossetti, Sandro S; Kubly, Vickie J VJ; Hopp, Katharina K; Torres, Vicente E VE; Coto, Eliecer E; Clementi, Maurizio M; Bogdanova, Nadja N; de Almeida, Edgar E; Bichet, Daniel G DG; Harris, Peter C PC
Publication Date: 2014-02

Variant appearance in text: PKD1: 12682C>T; R4228X
PubMed Link: 23760289
Variant Present in the following documents:
  • Main text
  • nihms-481064.pdf
View BVdb publication page