Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K420N

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.K420N
c.1260G>T
Surrounding Variants
1 paper
NM_000162.5
p.K420N
c.1260G>C
3 papers
NM_000162.5
p.E421K
c.1261G>A
NM_001354802.1
p.E41K
c.121G>A
1 paper
NM_000162.5
p.E421V
c.1262A>T
8 papers
NM_000162.5
p.K420E
c.1258A>G
3 papers
NM_000162.5
p.E421G
c.1262A>G
1 paper
NM_000162.5
p.E421delFs
c.1261delC
5 papers
NM_000162.5
p.F419L
c.1257C>G
1 paper
NM_000162.5
p.F419fs
c.1255_1256fs
5 papers
NM_000162.5
p.F419L
c.1257C>A
7 papers
NM_000162.5
p.F419delFs
c.1255delA
4 papers
NM_000162.5
p.F419C
c.1256T>G
1 paper
NM_000162.5
p.F419S
c.1256T>C
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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."