Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K256E
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SLC2A1

NM_006516.4:p.K256E

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Wang Y et al.

Scientific Reports, 2017

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

Lee EE et al.

Molecular Cell, 2015

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