Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L79P

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
2 papers
NM_000162.5
p.L79P
c.236T>C
Surrounding Variants
1 paper
NM_000162.5
p.L79V
c.235C>G
1 paper
NM_000162.5
p.L79M
c.235C>A
1 paper
NM_000162.5
p.G80R
c.238G>C
23 papers
NM_000162.5
p.G80S
c.238G>A
NM_033507.3
p.G81S
c.241G>A
13 papers
NM_000162.5
p.D78E
c.234C>G
13 papers
NM_000162.5
p.D78E
c.234C>A
3 papers
NM_000162.5
p.G80V
c.239G>T
13 papers
NM_000162.5
p.G80A
c.239G>C
3 papers
NM_000162.5
p.G80D
c.239G>A
4 papers
NM_000162.5
p.D78G
c.233A>G
1 paper
NM_000162.5
p.D78A
c.233A>C
1 paper
NM_000162.5
p.D78Y
c.232G>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."