Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB4
Variant:p.V452L
Back to variants list

PFKFB4

NM_004567.4:p.V452L

Associated Papers

The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.

Langer S et al.

Diabetologia, 2021

34532767 (PubMed )
Supplement: 125_2021_5553_MOESM1_ESM.pdf

Mutational analysis of allosteric activation and inhibition of glucokinase.

Zelent B et al.

The Biochemical Journal, 2011

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."