Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Y292C
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SLC2A1

NM_006516.4:p.Y292C

Associated Papers

[Clinical and genetic characteristics of familial cases with Glucose transporter 1 deficiency syndrome].

Zhang M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.

Zhang MJ et al.

World Journal of Pediatrics : Wjp, 2025

Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutations.

Inoue S et al.

Nature Communications, 2019

31857578 (PubMed )
Supplement: 41467_2019_13708_MOESM10_ESM.xlsx › SD7_SNV_EN

Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1.

Park MS

Plos One, 2015

Cysteine-scanning mutagenesis of transmembrane segment 7 of the GLUT1 glucose transporter.

Hruz PW et al.

The Journal of Biological Chemistry, 1999

Cysteine-scanning mutagenesis of flanking regions at the boundary between external loop I or IV and transmembrane segment II or VII in the GLUT1 glucose transporter.

Olsowski A et al.

Biochemistry, 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."