Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E339fs

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
2 papers
NM_000162.5
p.E339fs
c.1015_1016fs
Surrounding Variants
1 paper
NM_000162.5
p.E339*
c.1015G>T
6 papers
NM_000162.5
p.E339K
c.1015G>A
15 papers
NM_000162.5
p.E339G
c.1016A>G
2 papers
NM_000162.5
p.E339delFs
c.1015delC
1 paper
NM_033507.3
p.V339delFs
c.1015delC
1 paper
NM_000162.5
p.V338L
c.1012G>T
1 paper
NM_000162.5
p.V338L
c.1012G>C
1 paper
NM_000162.5
p.V338M
c.1012G>A
1 paper
NM_000162.5
p.V338fs
c.1012_1013fs
1 paper
NM_000162.5
p.S340fs
c.1018_1019fs
2 papers
NM_000162.5
p.S340G
c.1018A>G
2 papers
NM_000162.5
p.S340R
c.1018A>C
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