Varaico: Literature-Extracted Genetic Variants

Gene:ADPGK

ADPGK

39 papers

RefSeq Summary

ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [Pub...

Pfam Domains

ADP_PFK_GKaa 73–490UCSCADP-specific Phosphofructokinase/Glucokinase conserved region

Gene Aliases

HGNC Name

ADP dependent glucokinase

HGNC Alias Symbols

DKFZp434B195; ADP-GK

Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
4 papers
NM_001365225.1
p.R112G
c.334A>G
4 papers
NM_001365225.1
p.K184R
c.551A>G
1 paper
NM_001365225.1
p.A8V
c.23C>T
1 paper
NM_001365225.1
p.L13P
c.38T>C
1 paper
NM_001365225.1
p.S34T
c.100T>A
1 paper
NM_001365225.1
p.S34C
c.101C>G
1 paper
NM_001365225.1
p.R56L
c.167G>T
1 paper
NM_001365225.1
p.W61*
c.182G>A
1 paper
NM_001365225.1
p.W61*
c.183G>A
1 paper
NM_001365225.1
p.V69V
c.207C>G
1 paper
NM_001365225.1
p.V69V
c.207C>A
1 paper
NM_001365225.1
p.V79fs
c.235_236fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."