Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V101M

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
7 papers
NM_000162.5
p.V101M
c.301G>A
Surrounding Variants
1 paper
NM_000162.5
p.V101A
c.302T>C
1 paper
NM_000162.5
p.V101delFs
c.301delC
1 paper
NM_000162.5
p.S100fs
c.298_299fs
1 paper
NM_033508.3
p.S99I
c.296G>T
1 paper
NM_000162.5
p.S100N
c.299G>A
1 paper
NM_000162.5
p.S100delFs
c.298delT
1 paper
NM_000162.5
p.K102Q
c.304A>C
10 papers
NM_000162.5
p.W99C
c.297G>T
10 papers
NM_000162.5
p.W99C
c.297G>C
4 papers
NM_000162.5
p.W99*
c.297G>A
12 papers
NM_000162.5
p.W99L
c.296G>T
5 papers
NM_000162.5
p.W99*
c.296G>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."