Varaico: Literature-Extracted Genetic Variants

Gene:ADK
Variant:p.F302S

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
2 papers
NM_001123.4
p.F302S
c.905T>C
Surrounding Variants
1 paper
NM_001123.4
p.A301E
c.902C>A
1 paper
NM_001123.4
p.G299E
c.896G>A
1 paper
NM_001123.4
p.G299delFs
c.896delG
2 papers
NM_001123.4
p.A298D
c.893C>A
1 paper
NM_006721.4
p.N313S
c.938A>G
1 paper
NM_006721.4
p.E308Q
c.922G>C
1 paper
NM_006721.4
p.K307E
c.919A>G
1 paper
NM_006721.4
p.D305E
c.915C>A
1 paper
NM_006721.4
p.D305E
c.915C>G
1 paper
NM_006721.4
p.G322Splc
c.964+7727C>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."