Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M41L

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.M41L
c.121A>C
Surrounding Variants
3 papers
NM_000162.5
p.M41L
c.121A>T
4 papers
NM_000162.5
p.M41V
c.121A>G
5 papers
NM_000162.5
p.M41R
c.122T>G
10 papers
NM_000162.5
p.M41T
c.122T>C
3 papers
NM_000162.5
p.M41K
c.122T>A
5 papers
NM_000162.5
p.E40D
c.120G>T
5 papers
NM_000162.5
p.E40D
c.120G>C
3 papers
NM_000162.5
p.M41I
c.123G>T
3 papers
NM_000162.5
p.M41I
c.123G>C
3 papers
NM_000162.5
p.M41I
c.123G>A
4 papers
NM_000162.5
p.E40V
c.119A>T
4 papers
NM_000162.5
p.E40G
c.119A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."