Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.K245E

TPMT

748 papers

RefSeq Summary

This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine...

Pfam Domains

TPMTaa 24–245UCSCThiopurine S-methyltransferase (TPMT)

Gene Aliases

HGNC Name

thiopurine S-methyltransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000367.5
p.K245E
c.733A>G
Surrounding Variants
1 paper
NM_000367.5
p.E244K
c.730G>A
1 paper
NM_000367.5
p.Y240F
c.719A>T
494 papers
NM_000367.5
p.Y240C
c.719A>G
16 papers
NM_000367.5
p.Y240S
c.719A>C
14 papers
NM_000367.5
p.K238E
c.712A>G
1 paper
NM_000367.5
p.L235P
c.704T>C
1 paper
NM_000367.5
p.L235F
c.703C>T
1 paper
NM_000367.5
p.C234*
c.702T>A
2 papers
NM_000367.5
p.D233V
c.698A>T
1 paper
NM_000367.5
p.I232I
c.696T>C
1 paper
NM_000367.5
p.G231V
c.692G>T
1 paper
NM_000367.5
p.K228N
c.684A>T
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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."