Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T60S

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.T60S
c.179C>G
Surrounding Variants
7 papers
NM_000162.5
p.T60I
c.179C>T
2 papers
NM_000162.5
p.T60N
c.179C>A
1 paper
NM_000162.5
p.T60T
c.180C>A
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
3 papers
NM_000162.5
p.Y61D
c.181T>G
3 papers
NM_000162.5
p.Y61H
c.181T>C
2 papers
NM_000162.5
p.Y61N
c.181T>A
1 paper
NM_000162.5
p.P59P
c.177C>A
4 papers
NM_000162.5
p.P59L
c.176C>T
2 papers
NM_000162.5
p.P59R
c.176C>G
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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."