Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S76F

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.S76F
c.227C>T
Surrounding Variants
2 papers
NM_000162.5
p.S76C
c.227C>G
3 papers
NM_000162.5
p.S76Y
c.227C>A
4 papers
NM_000162.5
p.L77R
c.230T>G
6 papers
NM_000162.5
p.L77P
c.230T>C
1 paper
NM_000162.5
p.L75P
c.224T>C
1 paper
NM_000162.5
p.L75F
c.223C>T
1 paper
NM_000162.5
p.L75I
c.223C>A
1 paper
NM_000162.5
p.D78Y
c.232G>T
6 papers
NM_000162.5
p.D78H
c.232G>C
2 papers
NM_000162.5
p.D78N
c.232G>A
1 paper
NM_000162.5
p.F74Y
c.221T>A
4 papers
NM_000162.5
p.D78G
c.233A>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."