Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M34I

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
5 papers
NM_000162.5
p.M34I
c.102G>A
Surrounding Variants
4 papers
NM_000162.5
p.M34I
c.102G>T
5 papers
NM_000162.5
p.M34I
c.102G>C
4 papers
NM_000162.5
p.M34R
c.101T>G
4 papers
NM_000162.5
p.M34T
c.101T>C
3 papers
NM_000162.5
p.M34K
c.101T>A
3 papers
NM_000162.5
p.R35G
c.103A>G
3 papers
NM_000162.5
p.R35I
c.104G>T
3 papers
NM_000162.5
p.R35T
c.104G>C
3 papers
NM_000162.5
p.R35K
c.104G>A
3 papers
NM_000162.5
p.M34L
c.100A>T
3 papers
NM_000162.5
p.M34V
c.100A>G
3 papers
NM_000162.5
p.M34L
c.100A>C
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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."