Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S433N

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.S433N
c.1298G>A
Surrounding Variants
1 paper
NM_000162.5
p.C434G
c.1300T>G
1 paper
NM_000162.5
p.C434R
c.1300T>C
3 papers
NM_000162.5
p.C434F
c.1301G>T
6 papers
NM_000162.5
p.C434Y
c.1301G>A
2 papers
NM_000162.5
p.P432H
c.1295C>A
2 papers
NM_000162.5
p.L430_P432del0
c.1289_1294del6
1 paper
NM_000162.5
p.C434W
c.1302C>G
2 papers
NM_000162.5
p.C434*
c.1302C>A
1 paper
NM_000162.5
p.C434delins
c.1301_1302delinsTT
1 paper
NM_000162.5
p.P432fs
c.1294_1295fs
1 paper
NM_000162.5
p.E435K
c.1303G>A
1 paper
NM_000162.5
p.T431K
c.1292C>A
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