HP c.607_609delinsGAG ;(p.N203E)

Variant ID: 16-72094175-AAT-GAG

NM_005143.3(HP):c.607_609delinsGAG;(p.N203E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structure-function relationships of the soluble form of the antiaging protein Klotho have therapeutic implications for managing kidney disease.

The Journal Of Biological Chemistry
Zhong, Xiaotian X; Jagarlapudi, Srinath S; Weng, Yan Y; Ly, Mellisa M; Rouse, Jason C JC; McClure, Kim K; Ishino, Tetsuya T; Zhang, Yan Y; Sousa, Eric E; Cohen, Justin J; Tzvetkova, Boriana B; Cote, Kaffa K; Scarcelli, John J JJ; Johnson, Keith K; Palandra, Joe J; Apgar, James R JR; Yaddanapudi, Suma S; Gonzalez-Villalobos, Romer A RA; Opsahl, Alan C AC; Lam, Khetemenee K; Yao, Qing Q; Duan, Weili W; Sievers, Annette A; Zhou, Jing J; Ferguson, Darren D; D'Antona, Aaron A; Zollner, Richard R; Zhu, Hongli L HL; Kriz, Ron R; Lin, Laura L; Clerin, Valerie V
Publication Date: 2020-03-06

Variant appearance in text: HP: N203E
PubMed Link: 32005658
Variant Present in the following documents:
  • Main text
View BVdb publication page



AraC-like transcriptional activator CuxR binds c-di-GMP by a PilZ-like mechanism to regulate extracellular polysaccharide production.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schäper, Simon S; Steinchen, Wieland W; Krol, Elizaveta E; Altegoer, Florian F; Skotnicka, Dorota D; Søgaard-Andersen, Lotte L; Bange, Gert G; Becker, Anke A
Publication Date: 2017-06-13

Variant appearance in text: HP: N203E
PubMed Link: 28559336
Variant Present in the following documents:
  • Main text
View BVdb publication page