Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.W257C

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.W257C
c.771G>C
Surrounding Variants
1 paper
NM_000162.5
p.W257C
c.771G>T
1 paper
NM_000162.5
p.W257fs
c.769_770fs
7 papers
NM_000162.5
p.W257*
c.771G>A
12 papers
NM_000162.5
p.G258C
c.772G>T
1 paper
NM_000162.5
p.W257insFs
c.770_771insT
3 papers
NM_000162.5
p.G258R
c.772G>C
1 paper
NM_000162.5
p.W257S
c.770G>C
7 papers
NM_000162.5
p.G258S
c.772G>A
6 papers
NM_000162.5
p.W257*
c.770G>A
16 papers
NM_000162.5
p.W257R
c.769T>C
16 papers
NM_000162.5
p.W257R
c.769T>A
1 paper
NM_000162.5
p.E256del1
c.766_767delCTC
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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."