Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y289H

GCK

1,015 papers

RefSeq Summary

This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to ot...

Pfam Domains

Hexokinase_1aa 15–215UCSCHexokinase
Hexokinase_2aa 16–133UCSCHexokinase
Hexokinase_2aa 221–455UCSCHexokinase

Gene Aliases

HGNC Name

glucokinase

HGNC Previous Symbol

MODY2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000162.5
p.Y289H
c.865T>C
Surrounding Variants
2 papers
NM_000162.5
p.Y289N
c.865T>A
1 paper
NM_000162.5
p.Y289fs
c.865_866fs
3 papers
NM_000162.5
p.L288L
c.864G>C
1 paper
NM_000162.5
p.Y289F
c.866A>T
4 papers
NM_000162.5
p.Y289C
c.866A>G
1 paper
NM_000162.5
p.Y289delFs
c.865delA
4 papers
NM_000162.5
p.Y289*
c.867T>G
2 papers
NM_000162.5
p.L288R
c.863T>G
2 papers
NM_000162.5
p.L288P
c.863T>C
4 papers
NM_000162.5
p.Y289*
c.867T>A
2 papers
NM_000162.5
p.L288Q
c.863T>A
3 papers
NM_000162.5
p.L288Splc
c.864-1G>T
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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."