Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q282L
Back to variants list

SLC2A1

NM_006516.4:p.Q282L

Associated Papers

Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1.

Park MS

Plos One, 2015

Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.

Wang D et al.

Pediatric Research, 2008

Serine-294 and threonine-295 in the exofacial loop domain between helices 7 and 8 of glucose transporters (GLUT) are involved in the conformational alterations during the transport process.

Doege H et al.

The Biochemical Journal, 1998

Site-directed mutagenesis of GLUT1 in helix 7 residue 282 results in perturbation of exofacial ligand binding.

Hashiramoto M et al.

The Journal of Biological Chemistry, 1992

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."