Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.*466R

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.*466R
c.1396T>A
Surrounding Variants
1 paper
NM_000162.5
p.*466G
c.1396T>G
3 papers
NM_000162.5
p.*466R
c.1396T>C
1 paper
NM_000162.5
p.*466L
c.1397G>T
1 paper
NM_000162.5
p.Q465R
c.1394A>G
1 paper
NM_000162.5
p.G464fs
c.1390_1391fs
1 paper
NM_000162.5
p.G464delFs
c.1391delC
1 paper
NM_000162.5
p.G464D
c.1391G>A
8 papers
NM_000162.5
p.M462I
c.1386G>T
8 papers
NM_000162.5
p.M462I
c.1386G>C
8 papers
NM_000162.5
p.M462I
c.1386G>A
2 papers
NM_000162.5
p.K458_M462delFs
c.1373_1385del13
1 paper
NM_000162.5
p.K458_M462del0
c.1373_1384del12
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