Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R428C

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.R428C
c.1282C>T
Surrounding Variants
1 paper
NM_000162.5
p.R428S
c.1282C>A
1 paper
NM_000162.5
p.R428P
c.1283G>C
1 paper
NM_000162.5
p.V427G
c.1280T>G
1 paper
NM_000162.5
p.V427M
c.1279G>A
3 papers
NM_000162.5
p.R429K
c.1286G>A
2 papers
NM_000162.5
p.R429S
c.1287G>T
4 papers
NM_000162.5
p.S426_R429ins1
c.1278_1286dup9
2 papers
NM_000162.5
p.R429S
c.1287G>C
3 papers
NM_000162.5
p.S426_R429del0
c.1278_1286del9
3 papers
NM_000162.5
p.L430L
c.1288C>T
1 paper
NM_000162.5
p.R429insFs
c.1286dupG
1 paper
NM_000162.5
p.S426G
c.1276A>G
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