Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A460T

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.A460T
c.1378G>A
Surrounding Variants
3 papers
NM_000162.5
p.A460S
c.1378G>T
3 papers
NM_000162.5
p.A460P
c.1378G>C
3 papers
NM_000162.5
p.A460V
c.1379C>T
3 papers
NM_000162.5
p.A460G
c.1379C>G
3 papers
NM_000162.5
p.A460D
c.1379C>A
1 paper
NM_000162.5
p.K459delFs
c.1377delC
2 papers
NM_000162.5
p.A460fs
c.1378_1379fs
1 paper
NM_000162.5
p.C461R
c.1381T>C
1 paper
NM_000162.5
p.K458fs
c.1372_1373fs
2 papers
NM_000162.5
p.C461Y
c.1382G>A
1 paper
NM_000162.5
p.K458delFs
c.1372_1373delTT
1 paper
NM_000162.5
p.C461W
c.1383T>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."