Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A449S

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
5 papers
NM_000162.5
p.A449S
c.1345G>T
Surrounding Variants
4 papers
NM_000162.5
p.A449P
c.1345G>C
14 papers
NM_000162.5
p.A449T
c.1345G>A
1 paper
NM_000162.5
p.G448delFs
c.1344delG
5 papers
NM_000162.5
p.A449V
c.1346C>T
4 papers
NM_000162.5
p.A449G
c.1346C>G
1 paper
NM_000162.5
p.G448insFs
c.1343_1344insG
1 paper
NM_000162.5
p.G448fs
c.1342_1343fs
6 papers
NM_000162.5
p.A449E
c.1346C>A
1 paper
NM_000162.5
p.S445_A449delFs
c.1335_1345del11
5 papers
NM_000162.5
p.G448V
c.1343G>T
2 papers
NM_000162.5
p.A449fs
c.1345_1346fs
1 paper
NM_000162.5
p.G448A
c.1343G>C
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