Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T65A

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
3 papers
NM_000162.5
p.T65A
c.193A>G
Surrounding Variants
3 papers
NM_000162.5
p.T65S
c.193A>T
2 papers
NM_000162.5
p.T65P
c.193A>C
42 papers
NM_000162.5
p.T65I
c.194C>T
3 papers
NM_000162.5
p.T65S
c.194C>G
1 paper
NM_000162.5
p.S64S
c.192C>G
5 papers
NM_000162.5
p.T65N
c.194C>A
NM_033508.3
p.T64N
c.191C>A
11 papers
NM_000162.5
p.S64F
c.191C>T
NM_033507.3
p.S65F
c.194C>T
2 papers
NM_000162.5
p.S64C
c.191C>G
18 papers
NM_000162.5
p.S64Y
c.191C>A
3 papers
NM_000162.5
p.S64A
c.190T>G
13 papers
NM_000162.5
p.S64P
c.190T>C
2 papers
NM_000162.5
p.S64T
c.190T>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."