Varaico: Literature-Extracted Genetic Variants

Gene:TPMT

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
1–12 of 312 variants
494 papers
NM_000367.5
p.Y240C
c.719A>G
424 papers
NM_000367.5
p.A154T
c.460G>A
343 papers
NM_000367.5
p.A80P
c.238G>C
56 papers
NM_000367.5
p.R215H
c.644G>A
53 papers
NM_000367.5
p.Y180F
c.539A>T
41 papers
NM_000367.5
p.H227Q
c.681T>G
39 papers
NM_000367.5
p.E98*
c.292G>T
38 papers
NM_000367.5
p.L49S
c.146T>C
24 papers
NM_000367.5
p.R163H
c.488G>A
23 papers
NM_000367.5
p.S125L
c.374C>T
20 papers
NM_000367.5
p.K119T
c.356A>C
19 papers
NM_000367.5
p.V18I
c.52G>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."