Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S280N

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.S280N
c.839G>A
Surrounding Variants
1 paper
NM_000162.5
p.S280I
c.839G>T
1 paper
NM_000162.5
p.S280R
c.840C>G
1 paper
NM_000162.5
p.S280R
c.840C>A
4 papers
NM_000162.5
p.E279delFs
c.835_836delTC
1 paper
NM_000162.5
p.S280fs
c.838_839fs
1 paper
NM_000162.5
p.S280R
c.838A>C
2 papers
NM_000162.5
p.S281A
c.841T>G
1 paper
NM_000162.5
p.S281P
c.841T>C
1 paper
NM_000162.5
p.S280delFs
c.840delG
1 paper
NM_000162.5
p.E279D
c.837G>T
1 paper
NM_000162.5
p.E279D
c.837G>C
4 papers
NM_000162.5
p.S281F
c.842C>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."