Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K31T

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.K31T
c.92A>C
Surrounding Variants
3 papers
NM_000162.5
p.K31M
c.92A>T
3 papers
NM_000162.5
p.K31R
c.92A>G
3 papers
NM_000162.5
p.K31N
c.93G>T
3 papers
NM_000162.5
p.K31N
c.93G>C
3 papers
NM_000162.5
p.K31E
c.91A>G
3 papers
NM_000162.5
p.K31Q
c.91A>C
1 paper
NM_000162.5
p.L30fs
c.88_89fs
1 paper
NM_000162.5
p.L30L
c.90G>C
1 paper
NM_000162.5
p.L30delFs
c.89delA
3 papers
NM_000162.5
p.K32E
c.94A>G
3 papers
NM_000162.5
p.K32Q
c.94A>C
3 papers
NM_000162.5
p.L30R
c.89T>G
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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."