SLC22A5 c.1345T>G ;(p.Y449D)

Variant ID: 5-131728202-T-G

NM_003060.3(SLC22A5):c.1345T>G;(p.Y449D)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: SLC22A5: 1345T>G; Y449D
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Koleske, Megan L ML; McInnes, Gregory G; Brown, Julia E H JEH; Thomas, Neil N; Hutchinson, Keino K; Chin, Marcus Y MY; Koehl, Antoine A; Arkin, Michelle R MR; Schlessinger, Avner A; Gallagher, Renata C RC; Song, Yun S YS; Altman, Russ B RB; Giacomini, Kathleen M KM
Publication Date: 2022-11-16

Variant appearance in text: SLC22A5: 1345T>G; Tyr449Asp; rs11568514
PubMed Link: 36343260
Variant Present in the following documents:
  • pnas.2210247119.sd01.xlsx, sheet 1
View BVdb publication page



Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Jimd Reports
Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C
Publication Date: 2022-03

Variant appearance in text: SLC22A5: 1345T>G; Tyr449Asp
PubMed Link: 35281663
Variant Present in the following documents:
  • JMD2-63-146.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: SLC22A5: Y449D; rs11568514
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology
da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S
Publication Date: 2021

Variant appearance in text: rs11568514
PubMed Link: 34721006
Variant Present in the following documents:
  • datasheet1.pdf
View BVdb publication page



Using l-Carnitine as a Pharmacologic Probe of the Interpatient and Metabolic Variability of Sepsis.

Pharmacotherapy
Jennaro, Theodore S TS; Puskarich, Michael A MA; McCann, Marc R MR; Gillies, Christopher E CE; Pai, Manjunath P MP; Karnovsky, Alla A; Evans, Charles R CR; Jones, Alan E AE; Stringer, Kathleen A KA
Publication Date: 2020-09

Variant appearance in text: OCTN2: Tyr449Asp
PubMed Link: 32688453
Variant Present in the following documents:
  • Main text
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: SLC22A5: 1345T>G; rs11568514
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder.

Brain Sciences
Guevara-Campos, José J; González-Guevara, Lucía L; Guevara-González, José J; Cauli, Omar O
Publication Date: 2019-06-13

Variant appearance in text: OCTN2: 1345T>G
PubMed Link: 31200524
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Cancer Medicine
Chu, Gilbert G; Salzman, Julia J
Publication Date: 2019-05

Variant appearance in text: rs11568514
PubMed Link: 30977266
Variant Present in the following documents:
  • CAM4-8-1996-s001.pdf
View BVdb publication page



Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.

Journal Of Personalized Medicine
Lozano, Elisa E; Briz, Oscar O; Macias, Rocio I R RIR; Serrano, Maria A MA; Marin, Jose J G JJG; Herraez, Elisa E
Publication Date: 2018-04-16

Variant appearance in text: SLC22A5: 1345T>G
PubMed Link: 29659532
Variant Present in the following documents:
  • Main text
  • jpm-08-00014.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs11568514
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: SLC22A5: 1345T>G; Tyr449Asp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs11568514
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: SLC22A5: Y449D
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
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: CDSP: Y449D; rs11568514
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SLC22A5: Y449D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

Clinical Pharmacology And Therapeutics
Kroetz, D L DL; Yee, S W SW; Giacomini, K M KM
Publication Date: 2010-01

Variant appearance in text: OCTN2: Y449D
PubMed Link: 19940846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiomyopathy and carnitine deficiency.

Molecular Genetics And Metabolism
Amat di San Filippo, Cristina C; Taylor, Matthew R G MR; Mestroni, Luisa L; Botto, Lorenzo D LD; Longo, Nicola N
Publication Date: 2008-06

Variant appearance in text: SLC22A5: Y449D
PubMed Link: 18337137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disorders of carnitine transport and the carnitine cycle.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Longo, Nicola N; Amat di San Filippo, Cristina C; Pasquali, Marzia M
Publication Date: 2006-05-15

Variant appearance in text: OCTN2: 1345T>G
PubMed Link: 16602102
Variant Present in the following documents:
  • Main text
View BVdb publication page