Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y289C
Back to variants list

GCK

NM_000162.5:p.Y289C

Associated Papers

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.

Giuffrida FM et al.

Diabetes Research and Clinical Practice, 2013

MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Delvecchio M et al.

Clinical Genetics, 2013

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.

Capuano M et al.

Plos One, 2012

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."