Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.P59R

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
2 papers
NM_000162.5
p.P59R
c.176C>G
Surrounding Variants
4 papers
NM_000162.5
p.P59L
c.176C>T
2 papers
NM_000162.5
p.P59H
c.176C>A
17 papers
NM_000162.5
p.P59S
c.175C>T
2 papers
NM_000162.5
p.P59A
c.175C>G
3 papers
NM_000162.5
p.P59T
c.175C>A
1 paper
NM_000162.5
p.P59P
c.177C>A
1 paper
NM_000162.5
p.L58L
c.174G>C
2 papers
NM_000162.5
p.T60S
c.178A>T
3 papers
NM_000162.5
p.T60A
c.178A>G
2 papers
NM_000162.5
p.T60P
c.178A>C
4 papers
NM_000162.5
p.L58R
c.173T>G
9 papers
NM_000162.5
p.L58P
c.173T>C
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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."