Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V86A

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
5 papers
NM_000162.5
p.V86A
c.257T>C
Surrounding Variants
4 papers
NM_000162.5
p.V86V
c.258G>C
6 papers
NM_000162.5
p.V86V
c.258G>A
12 papers
NM_000162.5
p.M87L
c.259A>T
1 paper
NM_000162.5
p.F84_V86del3
c.250_257del9
1 paper
NM_000162.5
p.M87R
c.260T>G
1 paper
NM_000162.5
p.M87T
c.260T>C
2 papers
NM_000162.5
p.R85W
c.253A>T
1 paper
NM_000162.5
p.F84F
c.252C>T
1 paper
NM_000162.5
p.F84L
c.252C>G
1 paper
NM_000162.5
p.F84L
c.252C>A
1 paper
NM_000162.5
p.L88R
c.263T>G
1 paper
NM_000162.5
p.L88P
c.263T>C
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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."