Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A425T

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
4 papers
NM_000162.5
p.A425T
c.1273G>A
Surrounding Variants
3 papers
NM_000162.5
p.A425S
c.1273G>T
3 papers
NM_000162.5
p.A425P
c.1273G>C
3 papers
NM_000162.5
p.A425V
c.1274C>T
3 papers
NM_000162.5
p.A425G
c.1274C>G
3 papers
NM_000162.5
p.A425D
c.1274C>A
7 papers
NM_000162.5
p.H424Y
c.1270C>T
1 paper
NM_000162.5
p.S426G
c.1276A>G
4 papers
NM_000162.5
p.F423S
c.1268T>C
8 papers
NM_000162.5
p.F423Y
c.1268T>A
1 paper
NM_000162.5
p.F423I
c.1267T>A
1 paper
NM_000162.5
p.R422delFs
c.1266delC
1 paper
NM_000162.5
p.V427M
c.1279G>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."