Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R447delFs

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.R447delFs
c.1339delG
Surrounding Variants
6 papers
NM_000162.5
p.R447L
c.1340G>T
3 papers
NM_000162.5
p.R447P
c.1340G>C
19 papers
NM_000162.5
p.R447Q
c.1340G>A
1 paper
NM_000162.5
p.R447_G448ins1
c.1341_1342insCCG
2 papers
NM_000162.5
p.R447fs
c.1339_1340fs
6 papers
NM_000162.5
p.R447fs
c.1339_1340fs
2 papers
NM_000162.5
p.R447W
c.1339C>T
2 papers
NM_000162.5
p.R447G
c.1339C>G
2 papers
NM_000162.5
p.G448C
c.1342G>T
3 papers
NM_000162.5
p.G448S
c.1342G>A
5 papers
NM_000162.5
p.G448V
c.1343G>T
1 paper
NM_000162.5
p.G448A
c.1343G>C
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."