Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A450P

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.A450P
c.1348G>C
Surrounding Variants
6 papers
NM_000162.5
p.A450S
c.1348G>T
7 papers
NM_000162.5
p.A450T
c.1348G>A
1 paper
NM_000162.5
p.A449delFs
c.1346_1347delCG
2 papers
NM_000162.5
p.A449fs
c.1345_1346fs
7 papers
NM_000162.5
p.A450V
c.1349C>T
3 papers
NM_000162.5
p.A450G
c.1349C>G
4 papers
NM_000162.5
p.A450D
c.1349C>A
5 papers
NM_000162.5
p.A449V
c.1346C>T
4 papers
NM_000162.5
p.A449G
c.1346C>G
6 papers
NM_000162.5
p.A449E
c.1346C>A
1 paper
NM_000162.5
p.S445_A449delFs
c.1335_1345del11
5 papers
NM_000162.5
p.A449S
c.1345G>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."