Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.I19S

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.I19S
c.56T>G
Surrounding Variants
3 papers
NM_000162.5
p.I19T
c.56T>C
7 papers
NM_000162.5
p.I19N
c.56T>A
4 papers
NM_000162.5
p.I19M
c.57C>G
3 papers
NM_000162.5
p.I19F
c.55A>T
3 papers
NM_000162.5
p.I19V
c.55A>G
3 papers
NM_000162.5
p.I19L
c.55A>C
4 papers
NM_033507.3
p.Q19H
c.57G>T
NM_000162.5
p.Q18H
c.54G>T
4 papers
NM_033507.3
p.Q19H
c.57G>C
NM_000162.5
p.Q18H
c.54G>C
1 paper
NM_000162.5
p.L20L
c.58C>T
3 papers
NM_000162.5
p.L20V
c.58C>G
3 papers
NM_000162.5
p.L20M
c.58C>A
5 papers
NM_000162.5
p.L20R
c.59T>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."