Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M202T

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
10 papers
NM_000162.5
p.M202T
c.605T>C
Surrounding Variants
4 papers
NM_000162.5
p.M202R
c.605T>G
1 paper
NM_000162.5
p.M202V
c.604A>G
1 paper
NM_000162.5
p.V203M
c.607G>A
38 papers
NM_000162.5
p.V203A
c.608T>C
4 papers
NM_000162.5
p.V203E
c.608T>A
4 papers
NM_000162.5
p.A201V
c.602C>T
3 papers
NM_000162.5
p.A201G
c.602C>G
3 papers
NM_000162.5
p.A201E
c.602C>A
6 papers
NM_000162.5
p.A201S
c.601G>T
4 papers
NM_000162.5
p.A201P
c.601G>C
3 papers
NM_000162.5
p.A201T
c.601G>A
4 papers
NM_000162.5
p.V200V
c.600G>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."