Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E440V

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.E440V
c.1319A>T
Surrounding Variants
3 papers
NM_000162.5
p.E440G
c.1319A>G
6 papers
NM_000162.5
p.E440*
c.1318G>T
1 paper
NM_000162.5
p.E440D
c.1320G>T
1 paper
NM_000162.5
p.E440D
c.1320G>C
2 papers
NM_000162.5
p.S441P
c.1321T>C
1 paper
NM_000162.5
p.I439M
c.1317C>G
11 papers
NM_000162.5
p.S441L
c.1322C>T
11 papers
NM_000162.5
p.S441W
c.1322C>G
3 papers
NM_000162.5
p.S441*
c.1322C>A
1 paper
NM_000162.5
p.R428_F438delFs
c.1282_1313del32
5 papers
NM_000162.5
p.E442*
c.1324G>T
12 papers
NM_000162.5
p.E442K
c.1324G>A
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