Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R43H

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
22 papers
NM_000162.5
p.R43H
c.128G>A
Surrounding Variants
5 papers
NM_000162.5
p.R43L
c.128G>T
10 papers
NM_000162.5
p.R43P
c.128G>C
27 papers
NM_000162.5
p.R43C
c.127C>T
1 paper
NM_000162.5
p.R43R
c.129C>T
6 papers
NM_000162.5
p.R43G
c.127C>G
8 papers
NM_000162.5
p.R43S
c.127C>A
1 paper
NM_000162.5
p.R43R
c.129C>A
6 papers
NM_000162.5
p.G44C
c.130G>T
3 papers
NM_000162.5
p.G44R
c.130G>C
42 papers
NM_000162.5
p.G44S
c.130G>A
NM_033507.3
p.G45S
c.133G>A
1 paper
NM_000162.5
p.D42D
c.126C>T
3 papers
NM_000162.5
p.D42E
c.126C>G
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