Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.C457R

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
1 paper
NM_000162.5
p.C457R
c.1369T>C
Surrounding Variants
5 papers
NM_000162.5
p.R447_A456delFs
c.1340_1368del29
1 paper
NM_000162.5
p.C457Y
c.1370G>A
2 papers
NM_000162.5
p.C457W
c.1371T>G
1 paper
NM_000162.5
p.R447_C457del0
c.1340_1369del30
59 papers
NM_000162.5
p.A456V
c.1367C>T
3 papers
NM_000162.5
p.A456G
c.1367C>G
3 papers
NM_000162.5
p.A456D
c.1367C>A
3 papers
NM_000162.5
p.A456S
c.1366G>T
3 papers
NM_000162.5
p.A456P
c.1366G>C
3 papers
NM_000162.5
p.A456T
c.1366G>A
1 paper
NM_000162.5
p.K458E
c.1372A>G
1 paper
NM_000162.5
p.V452_A454del3
c.1354_1361del9
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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."