Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L185V

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.L185V
c.553C>G
Surrounding Variants
4 papers
NM_033507.3
p.L186L
c.556C>T
NM_000162.5
p.L185L
c.553C>T
1 paper
NM_000162.5
p.L185_R186insA
c.553_557ins3
1 paper
NM_000162.5
p.L185R
c.554T>G
6 papers
NM_000162.5
p.L185P
c.554T>C
1 paper
NM_000162.5
p.L185Q
c.554T>A
4 papers
NM_000162.5
p.L184P
c.551T>C
42 papers
NM_000162.5
p.R186*
c.556C>T
4 papers
NM_000162.5
p.R186G
c.556C>G
1 paper
NM_033507.3
p.L185_L186insA
c.553_557ins3
1 paper
NM_000162.5
p.L184I
c.550C>A
1 paper
NM_000162.5
p.G183delFs
c.548_549delCC
4 papers
NM_000162.5
p.R186L
c.557G>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."