SLC7A5 c.*438C>G

Variant ID: 16-87866138-G-C

NM_003486.5(SLC7A5):c.*438C>G

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1060253
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Impact of cognition-related single nucleotide polymorphisms on brain imaging phenotype in Parkinson's disease.

Neural Regeneration Research
Shen, Ting T; Pu, Jia-Li JL; Jiang, Ya-Si YS; Yue, Yu-Mei YM; He, Ting-Ting TT; Qu, Bo-Yi BY; Zhao, Shuai S; Yan, Ya-Ping YP; Lai, Hsin-Yi HY; Zhang, Bao-Rong BR
Publication Date: 2023-05

Variant appearance in text: rs1060253
PubMed Link: 36255006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: rs1060253
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Clinical and Clinical-Pharmacogenetic Models for Prediction of the Most Common Psychiatric Complications Due to Dopaminergic Treatment in Parkinson's Disease.

The International Journal Of Neuropsychopharmacology
Redenšek, Sara S; Jenko Bizjan, Barbara B; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2020-11-26

Variant appearance in text: rs1060253
PubMed Link: 32710539
Variant Present in the following documents:
  • Main text
  • pyaa028.pdf
View BVdb publication page



A Machine Learning-Based Identification of Genes Affecting the Pharmacokinetics of Tacrolimus Using the DMETTM Plus Platform.

International Journal Of Molecular Sciences
Gim, Jeong-An JA; Kwon, Yonghan Y; Lee, Hyun A HA; Lee, Kyeong-Ryoon KR; Kim, Soohyun S; Choi, Yoonjung Y; Kim, Yu Kyong YK; Lee, Howard H
Publication Date: 2020-04-04

Variant appearance in text: rs1060253
PubMed Link: 32260456
Variant Present in the following documents:
  • Main text
  • ijms-21-02517.pdf
View BVdb publication page



Clinical-Pharmacogenetic Predictive Models for Time to Occurrence of Levodopa Related Motor Complications in Parkinson's Disease.

Frontiers In Genetics
Redenšek, Sara S; Jenko Bizjan, Barbara B; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2019

Variant appearance in text: rs1060253
PubMed Link: 31156712
Variant Present in the following documents:
  • Main text
  • fgene-10-00461.pdf
View BVdb publication page



Dopaminergic Pathway Genes Influence Adverse Events Related to Dopaminergic Treatment in Parkinson's Disease.

Frontiers In Pharmacology
Redenšek, Sara S; Flisar, Dušan D; Kojović, Maja M; Gregorič Kramberger, Milica M; Georgiev, Dejan D; Pirtošek, Zvezdan Z; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2019

Variant appearance in text: rs1060253
PubMed Link: 30745869
Variant Present in the following documents:
  • Main text
  • fphar-10-00008.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs1060253
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Pharmacogenomic Study Reveals New Variants of Drug Metabolizing Enzyme and Transporter Genes Associated with Steady-State Plasma Concentrations of Risperidone and 9-Hydroxyrisperidone in Thai Autism Spectrum Disorder Patients.

Frontiers In Pharmacology
Medhasi, Sadeep S; Pinthong, Darawan D; Pasomsub, Ekawat E; Vanwong, Natchaya N; Ngamsamut, Nattawat N; Puangpetch, Apichaya A; Chamnanphon, Monpat M; Hongkaew, Yaowaluck Y; Pratoomwun, Jirawat J; Limsila, Penkhae P; Sukasem, Chonlaphat C
Publication Date: 2016

Variant appearance in text: rs1060253
PubMed Link: 28018217
Variant Present in the following documents:
  • Main text
  • fphar-07-00475.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1060253
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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: rs1060253
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: rs1060253
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



A single nucleotide polymorphism in SLC7A5 is associated with gastrointestinal toxicity after high-dose melphalan and autologous stem cell transplantation for multiple myeloma.

Biology Of Blood And Marrow Transplantation : Journal Of The American Society For Blood And Marrow Transplantation
Giglia, Jennifer L JL; White, Marquitta J MJ; Hart, Andrew J AJ; Toro, Juan J JJ; Freytes, César O CO; Holt, Cherish C CC; Cai, Ying Y; Williams, Scott M SM; Brandt, Stephen J SJ
Publication Date: 2014-07

Variant appearance in text: rs1060253
PubMed Link: 24704384
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs1060253
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Lack of association between autism and four heavy metal regulatory genes.

Neurotoxicology
Owens, Sarah E SE; Summar, Marshall L ML; Ryckman, Kelli K KK; Haines, Jonathan L JL; Reiss, Sara S; Summar, Samantha R SR; Aschner, Michael M
Publication Date: 2011-12

Variant appearance in text: rs1060253
PubMed Link: 21798283
Variant Present in the following documents:
  • Main text
View BVdb publication page