Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D205A

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.D205A
c.614A>C
Surrounding Variants
1 paper
NM_000162.5
p.D205G
c.614A>G
2 papers
NM_000162.5
p.D205Y
c.613G>T
4 papers
NM_000162.5
p.D205H
c.613G>C
4 papers
NM_000162.5
p.D205N
c.613G>A
3 papers
NM_000162.5
p.D205E
c.615C>G
1 paper
NM_000162.5
p.D205fs
c.613_614fs
1 paper
NM_000162.5
p.D205insFs
c.614dupA
3 papers
NM_000162.5
p.D205E
c.615C>A
2 papers
NM_000162.5
p.N204K
c.612T>G
2 papers
NM_000162.5
p.N204K
c.612T>A
1 paper
NM_000162.5
p.T206A
c.616A>G
14 papers
NM_000162.5
p.T206P
c.616A>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."