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PKD1 c.651C>T ;(p.T217=)
Variant ID: 16-2168342-G-A
NM_001009944.2(
PKD1
):c.651C>T;(p.T217=)
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:
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
Life Science Alliance
Gingras, Marie-Claude MC; Sabo, Aniko A; Cardenas, Maria M; Rana, Abbas A; Dhingra, Sadhna S; Meng, Qingchang Q; Hu, Jianhong J; Muzny, Donna M DM; Doddapaneni, Harshavardhan H; Perez, Lesette L; Korchina, Viktoriya V; Nessner, Caitlin C; Liu, Xiuping X; Chao, Hsu H; Goss, John J; Gibbs, Richard A RA
Publication Date: 2021-09
Variant appearance in text: PKD1: T217T
PubMed Link:
34301805
Variant Present in the following documents:
LSA-2020-00941_TableS3.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: T217T
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 20
View BVdb publication page
A pan-cancer analysis of synonymous mutations.
Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12
Variant appearance in text: PKD1: 651C>T
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page