Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L314P

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.L314P
c.941T>C
Surrounding Variants
1 paper
NM_000162.5
p.L314R
c.941T>G
1 paper
NM_000162.5
p.L314fs
c.940_941fs
1 paper
NM_033507.3
p.L315L
c.943C>T
11 papers
NM_000162.5
p.L315F
c.943C>T
1 paper
NM_000162.5
p.N313fs
c.937_938fs
1 paper
NM_000162.5
p.L315_F316insC
c.943_947ins3
1 paper
NM_000162.5
p.N313insFs
c.938dupA
1 paper
NM_000162.5
p.N313delFs
c.938delT
3 papers
NM_000162.5
p.L315P
c.944T>C
12 papers
NM_000162.5
p.L315H
c.944T>A
1 paper
NM_000162.5
p.E312_N313insFs
c.934_937dup4
1 paper
NM_000162.5
p.N313Y
c.937A>T
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."