Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V181_V182del1

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.V181_V182del1
c.543_545delACG
Surrounding Variants
1 paper
NM_000162.5
p.V182G
c.545T>G
1 paper
NM_000162.5
p.V182A
c.545T>C
1 paper
NM_000162.5
p.G183W
c.547G>T
1 paper
NM_000162.5
p.G183R
c.547G>A
10 papers
NM_000162.5
p.V182L
c.544G>T
10 papers
NM_000162.5
p.V182L
c.544G>C
51 papers
NM_000162.5
p.V182M
c.544G>A
NM_033507.3
p.V183M
c.547G>A
2 papers
NM_000162.5
p.V182del1
c.544_545delCAC
5 papers
NM_000162.5
p.V181A
c.542T>C
2 papers
NM_000162.5
p.V181D
c.542T>A
1 paper
NM_033507.3
p.L185_L186insA
c.553_557ins3
1 paper
NM_000162.5
p.L184I
c.550C>A
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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."