GCK c.524G>T ;(p.G175V)

Variant ID: 7-44189623-C-A

NM_000162.3(GCK):c.524G>T;(p.G175V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GCK: G175V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Scientific Reports
Šimčíková, Daniela D; Kocková, Lucie L; Vackářová, Kateřina K; Těšínský, Miroslav M; Heneberg, Petr P
Publication Date: 2017-08-25

Variant appearance in text: GCK: G175V
PubMed Link: 28842611
Variant Present in the following documents:
  • 41598_2017_9810_MOESM1_ESM.pdf
View BVdb publication page



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

Theranostics
George, Doss C Priya DC; Chakraborty, Chiranjib C; Haneef, S A Syed SA; Nagasundaram, Nagarajan N; Chen, Luonan L; Zhu, Hailong H
Publication Date: 2014

Variant appearance in text: GCK: G175V
PubMed Link: 24578721
Variant Present in the following documents:
  • thnov04p0366s1.pdf
View BVdb publication page