Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.I110N

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.I110N
c.329T>A
Surrounding Variants
6 papers
NM_000162.5
p.I110T
c.329T>C
1 paper
NM_000162.5
p.I110fs
c.328_329fs
1 paper
NM_000162.5
p.S109delFs
c.326delG
3 papers
NM_000162.5
p.P111A
c.331C>G
3 papers
NM_000162.5
p.P111T
c.331C>A
5 papers
NM_000162.5
p.P111L
c.332C>T
1 paper
NM_000162.5
p.S109P
c.325T>C
1 paper
NM_000162.5
p.P111P
c.333C>A
1 paper
NM_000162.5
p.E112Q
c.334G>C
3 papers
NM_000162.5
p.E112K
c.334G>A
1 paper
NM_000162.5
p.Q106_P111delFs
c.317_333del17
3 papers
NM_000162.5
p.Y108*
c.324C>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."