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PKD1 c.10043G>A ;(p.R3348Q)
Variant ID: 16-2149652-C-T
NM_001009944.2(
PKD1
):c.10043G>A;(p.R3348Q)
This variant was identified in 4 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: Arg3348Gln
PubMed Link:
31514750
Variant Present in the following documents:
Main text
12882_2019_Article_1540.pdf
12882_2019_1540_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: PKD1: R3348Q
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 36
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: Arg3348Gln
PubMed Link:
27499327
Variant Present in the following documents:
Main text
srep30850.pdf
View BVdb publication page
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18
Variant appearance in text: PKD1: 10043G>A; Arg3348Gln
PubMed Link:
22008521
Variant Present in the following documents:
Main text
1471-2369-12-57.pdf
View BVdb publication page