Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T437S

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.T437S
c.1310C>G
Surrounding Variants
1 paper
NM_000162.5
p.T437I
c.1310C>T
1 paper
NM_000162.5
p.I436del1
c.1306_1307delGAT
1 paper
NM_000162.5
p.S433_T437del0
c.1298_1309del12
1 paper
NM_000162.5
p.T437S
c.1309A>T
1 paper
NM_000162.5
p.F438S
c.1313T>C
5 papers
NM_000162.5
p.I436N
c.1307T>A
1 paper
NM_000162.5
p.F438Y
c.1313T>A
3 papers
NM_000162.5
p.I436F
c.1306A>T
1 paper
NM_000162.5
p.I436V
c.1306A>G
1 paper
NM_000162.5
p.R428_F438delFs
c.1282_1313del32
1 paper
NM_000162.5
p.E435G
c.1304A>G
1 paper
NM_000162.5
p.E435K
c.1303G>A
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