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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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