Varaico: Literature-Extracted Genetic Variants

Gene:ADK

ADK

90 papers

RefSeq Summary

This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenin...

Pfam Domains

PfkBaa 42–360UCSCpfkB family carbohydrate kinase

Gene Aliases

HGNC Name

adenosine kinase

HGNC Alias Name

adenosine 5'-phosphotransferase

Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
2 papers
NM_001123.4
p.Q67*
c.199C>T
2 papers
NM_006721.4
p.A101V
c.302C>T
2 papers
NM_006721.4
p.V125A
c.374T>C
2 papers
NM_006721.4
p.M271insFs
c.813dupG
2 papers
NM_006721.4
p.N272fs
c.814_815fs
2 papers
NM_006721.4
p.R277*
c.829C>T
2 papers
NM_001123.4
p.A298D
c.893C>A
2 papers
NM_001123.4
p.F302S
c.905T>C
2 papers
NM_001123.4
p.Q309*
c.925C>T
1 paper
NM_006721.4
p.E5Q
c.13G>C
1 paper
NM_006721.4
p.K12insFs
c.34_35insAG
1 paper
NM_006721.4
p.K12E
c.34A>G
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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."