PKD1 c.6544C>T ;(p.Q2182*)

Variant ID: 16-2158624-G-A

NM_001009944.2(PKD1):c.6544C>T;(p.Q2182*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.

Bmc Nephrology
Magistroni, Riccardo R; Mangolini, Alessandra A; Guzzo, Sonia S; Testa, Francesca F; Rapanà, Mario R MR; Mignani, Renzo R; Russo, Giorgia G; di Virgilio, Francesco F; Aguiari, Gianluca G
Publication Date: 2019-09-13

Variant appearance in text: PKD1: Gln2182X
PubMed Link: 31514750
Variant Present in the following documents:
  • 12882_2019_1540_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine
Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X
Publication Date: 2019-06

Variant appearance in text: PKD1: 6544C>T; Gln2182X
PubMed Link: 31056860
Variant Present in the following documents:
  • Main text
  • MGG3-7-e720.pdf
View BVdb publication page



Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports
Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M
Publication Date: 2016-08-08

Variant appearance in text: PKD1: 6544C>T; Gln2182*
PubMed Link: 27499327
Variant Present in the following documents:
  • srep30850-s4.xlsx, sheet 1
View BVdb publication page