Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N204D

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.N204D
c.610A>G
Surrounding Variants
2 papers
NM_000162.5
p.N204Y
c.610A>T
1 paper
NM_000162.5
p.V203delFs
c.608_609delCA
1 paper
NM_000162.5
p.N204S
c.611A>G
2 papers
NM_000162.5
p.N204K
c.612T>G
38 papers
NM_000162.5
p.V203A
c.608T>C
4 papers
NM_000162.5
p.V203E
c.608T>A
2 papers
NM_000162.5
p.N204K
c.612T>A
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
1 paper
NM_000162.5
p.V203M
c.607G>A
1 paper
NM_000162.5
p.D205G
c.614A>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."