Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.S172P

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
3 papers
NM_000367.5
p.S172P
c.514T>C
Surrounding Variants
4 papers
NM_000367.5
p.L174P
c.521T>C
1 paper
NM_000367.5
p.L174L
c.522G>A
1 paper
NM_000367.5
p.G175*
c.523G>T
1 paper
NM_000367.5
p.K176N
c.528G>T
1 paper
NM_000367.5
p.K176N
c.528G>C
12 papers
NM_000367.5
p.A167G
c.500C>G
5 papers
NM_000367.5
p.Y166C
c.497A>G
1 paper
NM_000367.5
p.Y166D
c.496T>G
1 paper
NM_000367.5
p.F178L
c.532T>C
3 papers
NM_000367.5
p.C165Splc
c.495-1G>A
1 paper
NM_000367.5
p.Q179R
c.536A>G
14 papers
NM_000367.5
p.Q179H
c.537G>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."