Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC2A1

Variant:p.S285_G286insFs

Back to variants list

SLC2A1

NM_006516.4:p.S285_G286insFs

hg38:chr1:42929604 C>CAA

Associated Papers

A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report.

Sobrinho LMF et al.

Molecular Genetics and Metabolism Reports, 2024

39629096 (PubMed )

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."