Varaico: Literature-Extracted Genetic Variants

Gene:ADK
Variant:p.N133T

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.N133T
c.398A>C
Surrounding Variants
1 paper
NM_006721.4
p.E131K
c.391G>A
1 paper
NM_006721.4
p.H128R
c.383A>G
1 paper
NM_006721.4
p.G138E
c.413G>A
2 papers
NM_006721.4
p.V125A
c.374T>C
1 paper
NM_006721.4
p.A123A
c.369C>T
1 paper
NM_006721.4
p.C143R
c.427T>C
1 paper
NM_006721.4
p.G108E
c.323G>A
1 paper
NM_006721.4
p.I107L
c.319A>C
2 papers
NM_006721.4
p.A101V
c.302C>T
1 paper
NM_006721.4
p.H98Q
c.294C>A
1 paper
NM_006721.4
p.Q96P
c.287A>C
1 paper
NM_006721.4
p.W92*
c.276G>A
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