GCK c.47T>A ;(p.V16E)

Variant ID: 7-44193061-A-T

NM_000162.3(GCK):c.47T>A;(p.V16E)

This variant was identified in 2 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: V16E
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: V16E
PubMed Link: 28842611
Variant Present in the following documents:
  • 41598_2017_9810_MOESM1_ESM.pdf
View BVdb publication page