CHST13 c.950G>C ;(p.R317P)

Variant ID: 3-126261345-G-C

NM_152889.2(CHST13):c.950G>C;(p.R317P)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1056522
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1056522
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption.

Plos One
Bergen, Andrew W AW; Michel, Martha M; Nishita, Denise D; Krasnow, Ruth R; Javitz, Harold S HS; Conneely, Karen N KN; Lessov-Schlaggar, Christina N CN; Hops, Hyman H; Zhu, Andy Z X AZ; Baurley, James W JW; McClure, Jennifer B JB; Hall, Sharon M SM; Baker, Timothy B TB; Conti, David V DV; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF; Swan, Gary E GE; ,
Publication Date: 2015

Variant appearance in text: rs1056522
PubMed Link: 26132489
Variant Present in the following documents:
  • Main text
  • pone.0126113.pdf
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs1056522
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs1056522
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Pharmacogenomic characterization of gemcitabine response--a framework for data integration to enable personalized medicine.

Pharmacogenetics And Genomics
Harris, Michael M; Bhuvaneshwar, Krithika K; Natarajan, Thanemozhi T; Sheahan, Laura L; Wang, Difei D; Tadesse, Mahlet G MG; Shoulson, Ira I; Filice, Ross R; Steadman, Kenneth K; Pishvaian, Michael J MJ; Madhavan, Subha S; Deeken, John J
Publication Date: 2014-02

Variant appearance in text: rs1056522
PubMed Link: 24401833
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1056522
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page