Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y61H

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
3 papers
NM_000162.5
p.Y61H
c.181T>C
Surrounding Variants
3 papers
NM_000162.5
p.Y61D
c.181T>G
2 papers
NM_000162.5
p.Y61N
c.181T>A
1 paper
NM_000162.5
p.T60T
c.180C>A
2 papers
NM_000162.5
p.Y61F
c.182A>T
8 papers
NM_000162.5
p.Y61C
c.182A>G
9 papers
NM_000162.5
p.Y61S
c.182A>C
7 papers
NM_000162.5
p.T60I
c.179C>T
16 papers
NM_000162.5
p.Y61*
c.183C>G
2 papers
NM_000162.5
p.T60S
c.179C>G
1 paper
NM_033507.3
p.Y62insFs
c.185_186insA
16 papers
NM_000162.5
p.Y61*
c.183C>A
2 papers
NM_000162.5
p.T60N
c.179C>A
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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."