Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E322K

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
12 papers
NM_000162.5
p.E322K
c.964G>A
Surrounding Variants
1 paper
NM_000162.5
p.S321F
c.962C>T
1 paper
NM_000162.5
p.Q323R
c.968A>G
2 papers
NM_000162.5
p.A320V
c.959C>T
3 papers
NM_000162.5
p.A320G
c.959C>G
1 paper
NM_000162.5
p.A320insFs
c.959_960ins7
4 papers
NM_000162.5
p.A320D
c.959C>A
1 paper
NM_000162.5
p.E319_A320del1
c.956_958delCCT
3 papers
NM_000162.5
p.A320S
c.958G>T
3 papers
NM_000162.5
p.A320P
c.958G>C
3 papers
NM_000162.5
p.A320T
c.958G>A
1 paper
NM_000162.5
p.L324R
c.971T>G
9 papers
NM_000162.5
p.L324P
c.971T>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."