Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T65I

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
42 papers
NM_000162.5
p.T65I
c.194C>T
Surrounding Variants
3 papers
NM_000162.5
p.T65S
c.194C>G
5 papers
NM_000162.5
p.T65N
c.194C>A
NM_033508.3
p.T64N
c.191C>A
3 papers
NM_000162.5
p.T65S
c.193A>T
3 papers
NM_000162.5
p.T65A
c.193A>G
2 papers
NM_000162.5
p.T65P
c.193A>C
3 papers
NM_000162.5
p.P66S
c.196C>T
3 papers
NM_000162.5
p.P66A
c.196C>G
1 paper
NM_000162.5
p.S64S
c.192C>G
2 papers
NM_000162.5
p.P66T
c.196C>A
11 papers
NM_000162.5
p.S64F
c.191C>T
NM_033507.3
p.S65F
c.194C>T
3 papers
NM_033508.3
p.P65L
c.194C>T
NM_000162.5
p.P66L
c.197C>T
2 papers
NM_000162.5
p.P66R
c.197C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."