Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K458delFs

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.K458delFs
c.1372_1373delTT
Surrounding Variants
1 paper
NM_000162.5
p.K458fs
c.1372_1373fs
2 papers
NM_000162.5
p.K458R
c.1373A>G
1 paper
NM_000162.5
p.K458E
c.1372A>G
2 papers
NM_000162.5
p.C457W
c.1371T>G
1 paper
NM_000162.5
p.R447_C457del0
c.1340_1369del30
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.A460T
c.1378G>A
1 paper
NM_000162.5
p.C457Y
c.1370G>A
1 paper
NM_000162.5
p.C457R
c.1369T>C
5 papers
NM_000162.5
p.R447_A456delFs
c.1340_1368del29
3 papers
NM_000162.5
p.A460V
c.1379C>T
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