Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.H50fs

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
1 paper
NM_000162.5
p.H50fs
c.148_149fs
Surrounding Variants
11 papers
NM_000162.5
p.H50Y
c.148C>T
7 papers
NM_000162.5
p.H50D
c.148C>G
3 papers
NM_000162.5
p.H50N
c.148C>A
1 paper
NM_000162.5
p.T49T
c.147C>G
7 papers
NM_000162.5
p.H50L
c.149A>T
7 papers
NM_000162.5
p.H50R
c.149A>G
3 papers
NM_000162.5
p.H50P
c.149A>C
2 papers
NM_000162.5
p.H50delFs
c.148delG
3 papers
NM_000162.5
p.H50fs
c.148_149fs
3 papers
NM_000162.5
p.H50insFs
c.149dupA
3 papers
NM_000162.5
p.H50Q
c.150T>G
3 papers
NM_000162.5
p.H50Q
c.150T>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."