Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.G54V
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SLC7A7

NM_003982.4:p.G54V

Associated Papers

Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies.

Gopalakrishnan C et al.

Journal of Cellular Biochemistry, 2019

Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods.

Hao DC et al.

European Journal of Drug Metabolism and Pharmacokinetics, 2013

Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.

Toivonen M et al.

Biochemical and Biophysical Research Communications, 2002

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

Font MA et al.

Human Molecular Genetics, 2001

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

Mykkänen J et al.

Human Molecular Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."