Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.T295S
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SLC2A1

NM_006516.4:p.T295S

Associated Papers

Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models.

Cunningham P et al.

The Journal of Membrane Biology, 2013

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

Wang D et al.

Pediatric Research, 2008

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

Wang D et al.

Annals of Neurology, 2005

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

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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."