Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.I163N

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.I163N
c.488T>A
Surrounding Variants
1 paper
NM_000162.5
p.I163L
c.487A>C
1 paper
NM_000162.5
p.L164fs
c.490_491fs
5 papers
NM_033507.3
p.L165F
c.493C>T
NM_000162.5
p.L164F
c.490C>T
1 paper
NM_000162.5
p.L164I
c.490C>A
1 paper
NM_000162.5
p.G162delFs
c.485delC
9 papers
NM_000162.5
p.L164P
c.491T>C
1 paper
NM_000162.5
p.L164delFs
c.490delG
6 papers
NM_000162.5
p.G162D
c.485G>A
3 papers
NM_000162.5
p.G162R
c.484G>C
3 papers
NM_000162.5
p.G162S
c.484G>A
1 paper
NM_000162.5
p.G162fs
c.484_485fs
1 paper
NM_033508.3
p.K160_G161Splc
c.481-1G>A
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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."