PKD1 c.4195T>A ;(p.W1399R)

Variant ID: 16-2160973-A-T

NM_001009944.2(PKD1):c.4195T>A;(p.W1399R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: PKD1: W1399R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Plos One
Chang, Han H; Jackson, Donald G DG; Kayne, Paul S PS; Ross-Macdonald, Petra B PB; Ryseck, Rolf-Peter RP; Siemers, Nathan O NO
Publication Date: 2011

Variant appearance in text: PKD1: W1399R
PubMed Link: 21701589
Variant Present in the following documents:
  • pone.0021097.s002.xls, sheet 8
View BVdb publication page



Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Journal Of The American Society Of Nephrology : Jasn
Vujic, Mihailo M; Heyer, Christina M CM; Ars, Elisabet E; Hopp, Katharina K; Markoff, Arseni A; Orndal, Charlotte C; Rudenhed, Bengt B; Nasr, Samih H SH; Torres, Vicente E VE; Torra, Roser R; Bogdanova, Nadja N; Harris, Peter C PC
Publication Date: 2010-07

Variant appearance in text: PKD1: W1399R
PubMed Link: 20558538
Variant Present in the following documents:
  • Main text
View BVdb publication page