Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F419L

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.F419L
c.1257C>G
Surrounding Variants
1 paper
NM_000162.5
p.F419fs
c.1255_1256fs
5 papers
NM_000162.5
p.F419L
c.1257C>A
7 papers
NM_000162.5
p.F419delFs
c.1255delA
4 papers
NM_000162.5
p.F419C
c.1256T>G
1 paper
NM_000162.5
p.F419S
c.1256T>C
8 papers
NM_000162.5
p.K420E
c.1258A>G
1 paper
NM_000162.5
p.F419V
c.1255T>G
5 papers
NM_000162.5
p.F419L
c.1255T>C
2 papers
NM_000162.5
p.F419fs
c.1255_1256fs
1 paper
NM_000162.5
p.K420N
c.1260G>T
1 paper
NM_000162.5
p.K420N
c.1260G>C
2 papers
NM_000162.5
p.S418Splc
c.1254-1G>T
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