Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S340Splc

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
10 papers
NM_000162.5
p.S340Splc
c.1019+1G>A
Surrounding Variants
1 paper
NM_000162.5
p.S340Splc
c.1019+1G>T
6 papers
NM_000162.5
p.S340Splc
c.1019+2T>G
9 papers
NM_000162.5
p.S340Splc
c.1019+2T>C
2 papers
NM_000162.5
p.S340Splc
c.1019+2T>A
8 papers
NM_000162.5
p.S340I
c.1019G>T
1 paper
NM_000162.5
p.S340insFs
c.1019_1020ins17
7 papers
NM_000162.5
p.S340T
c.1019G>C
4 papers
NM_000162.5
p.S340N
c.1019G>A
1 paper
NM_000162.5
p.F334_S340delFs
c.1000_1018del19
1 paper
NM_000162.5
p.S340fs
c.1018_1019fs
2 papers
NM_000162.5
p.S340G
c.1018A>G
2 papers
NM_000162.5
p.S340R
c.1018A>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."