rs28928874

This is a variant in the SLC2A2 gene that changes a valine to an glutamate.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Fanconi-Bickel syndrome (FBS)

About SLC2A2

This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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