Varaico: Literature-Extracted Genetic Variants

Gene:ADK
Variant:p.I278T

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.I278T
c.833T>C
Surrounding Variants
2 papers
NM_006721.4
p.R277*
c.829C>T
1 paper
NM_006721.4
p.R275K
c.824G>A
2 papers
NM_006721.4
p.N272fs
c.814_815fs
2 papers
NM_006721.4
p.M271insFs
c.813dupG
1 paper
NM_006721.4
p.E293K
c.877G>A
1 paper
NM_006721.4
p.T255A
c.763A>G
1 paper
NM_006721.4
p.E254_T255Splc
c.763-1G>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."