SLC16A7 c.1333A>G ;(p.T445A)

Variant ID: 12-60173356-A-G

NM_001270623.1(SLC16A7):c.1333A>G;(p.T445A)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs3763980
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



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: rs3763980
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Functional Relevance of the Monocarboxylate Transporter Family in Disease Pathophysiology and Drug Therapy.

Clinical And Translational Science
Fisel, Pascale P; Schaeffeler, Elke E; Schwab, Matthias M
Publication Date: 2018-07

Variant appearance in text: rs3763980
PubMed Link: 29660777
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs3763980
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Whole Exome Sequencing to Identify Genetic Variants Associated with Raised Atherosclerotic Lesions in Young Persons.

Scientific Reports
Hixson, James E JE; Jun, Goo G; Shimmin, Lawrence C LC; Wang, Yizhi Y; Yu, Guoqiang G; Mao, Chunhong C; Warren, Andrew S AS; Howard, Timothy D TD; Heide, Richard S Vander RSV; Van Eyk, Jennifer J; Wang, Yue Y; Herrington, David M DM
Publication Date: 2017-06-22

Variant appearance in text: rs3763980
PubMed Link: 28642624
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_4433.pdf
View BVdb publication page



Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

Scientific Reports
Qiu, Qi Q; Huang, Jing J; Shu, Xiaoming X; Fan, Huizheng H; Zhou, Youwen Y; Xiao, Cheng C
Publication Date: 2017-03-07

Variant appearance in text: rs3763980
PubMed Link: 28266606
Variant Present in the following documents:
  • Main text
  • srep44015.pdf
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: rs3763980
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted?

International Journal Of Molecular Sciences
Lima, Aurea A; Bernardes, Miguel M; Azevedo, Rita R; Medeiros, Rui R; Seabra, Vítor V
Publication Date: 2015-06-16

Variant appearance in text: rs3763980
PubMed Link: 26086825
Variant Present in the following documents:
  • Main text
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: rs3763980
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs3763980
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Prediction of methotrexate efficacy and adverse events in patients with juvenile idiopathic arthritis: a systematic literature review.

Pediatric Rheumatology Online Journal
van Dijkhuizen, E H Pieter EH; Wulffraat, Nico M NM
Publication Date: 2014

Variant appearance in text: rs3763980
PubMed Link: 25525416
Variant Present in the following documents:
  • Main text
  • 12969_2014_Article_2173.pdf
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: rs3763980
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Generation of novel pharmacogenomic candidates in response to methotrexate in juvenile idiopathic arthritis: correlation between gene expression and genotype.

Pharmacogenetics And Genomics
Moncrieffe, Halima H; Hinks, Anne A; Ursu, Simona S; Kassoumeri, Laura L; Etheridge, Angela A; Hubank, Mike M; Martin, Paul P; Weiler, Tracey T; Glass, David N DN; Thompson, Susan D SD; Thomson, Wendy W; Wedderburn, Lucy R LR
Publication Date: 2010-11

Variant appearance in text: rs3763980
PubMed Link: 20827233
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: rs3763980
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 5
View BVdb publication page