Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F195S

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
3 papers
NM_000162.5
p.F195S
c.584T>C
Surrounding Variants
1 paper
NM_000162.5
p.D194fs
c.580_581fs
1 paper
NM_000162.5
p.E196G
c.587A>G
1 paper
NM_000162.5
p.D194A
c.581A>C
1 paper
NM_000162.5
p.D194delFs
c.580delC
1 paper
NM_000162.5
p.D194fs
c.580_581fs
8 papers
NM_000162.5
p.G193_D194Splc
c.580-1G>A
4 papers
NM_000162.5
p.M197L
c.589A>T
8 papers
NM_000162.5
p.M197V
c.589A>G
3 papers
NM_000162.5
p.M197L
c.589A>C
6 papers
NM_000162.5
p.M197T
c.590T>C
2 papers
NM_000162.5
p.M197K
c.590T>A
1 paper
NM_000162.5
p.G193_D194Splc
c.580-2A>T
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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."