Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.I115T

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.I115T
c.344T>C
Surrounding Variants
8 papers
NM_000367.5
p.E114K
c.340G>A
4 papers
NM_000367.5
p.G117R
c.349G>C
4 papers
NM_000367.5
p.G117R
c.349G>A
9 papers
NM_000367.5
p.T113T
c.339C>T
1 paper
NM_000367.5
p.T113S
c.337A>T
1 paper
NM_000367.5
p.I112N
c.335T>A
20 papers
NM_000367.5
p.K119T
c.356A>C
2 papers
NM_000367.5
p.E110Q
c.328G>C
13 papers
NM_000367.5
p.K122T
c.365A>C
1 paper
NM_000367.5
p.K122_S123Splc
c.366+1G>A
1 paper
NM_000367.5
p.Y107*
c.321C>G
1 paper
NM_000367.5
p.Y107*
c.321C>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."