Varaico: Literature-Extracted Genetic Variants

Gene:ADK
Variant:p.E5Q

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
Selected Variant
1 paper
NM_006721.4
p.E5Q
c.13G>C
Surrounding Variants
1 paper
NM_006721.4
p.K12insFs
c.34_35insAG
1 paper
NM_006721.4
p.K12E
c.34A>G
1 paper
NM_006721.4
p.R22*
c.64A>T
1 paper
NM_006721.4
p.R22Splc
c.65+1230C>A
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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."