Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.C252S

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
1 paper
NM_000162.5
p.C252S
c.754T>A
Surrounding Variants
2 papers
NM_000162.5
p.C252G
c.754T>G
8 papers
NM_000162.5
p.C252R
c.754T>C
5 papers
NM_000162.5
p.M251I
c.753G>T
5 papers
NM_000162.5
p.M251I
c.753G>C
1 paper
NM_000162.5
p.C252S
c.755G>C
14 papers
NM_000162.5
p.C252Y
c.755G>A
NM_033507.3
p.C253Y
c.758G>A
5 papers
NM_000162.5
p.M251I
c.753G>A
3 papers
NM_000162.5
p.M251R
c.752T>G
6 papers
NM_000162.5
p.M251T
c.752T>C
2 papers
NM_000162.5
p.M251K
c.752T>A
1 paper
NM_000162.5
p.C252W
c.756C>G
7 papers
NM_000162.5
p.V253F
c.757G>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."