Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V200V

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
4 papers
NM_000162.5
p.V200V
c.600G>A
Surrounding Variants
4 papers
NM_000162.5
p.V200A
c.599T>C
6 papers
NM_000162.5
p.A201S
c.601G>T
4 papers
NM_000162.5
p.A201P
c.601G>C
3 papers
NM_000162.5
p.A201T
c.601G>A
3 papers
NM_000162.5
p.V200L
c.598G>T
3 papers
NM_000162.5
p.V200L
c.598G>C
4 papers
NM_000162.5
p.A201V
c.602C>T
3 papers
NM_000162.5
p.A201G
c.602C>G
3 papers
NM_000162.5
p.A201E
c.602C>A
1 paper
NM_033507.3
p.V200V
c.600G>A
2 papers
NM_000162.5
p.V199A
c.596T>C
1 paper
NM_000162.5
p.M202V
c.604A>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."