Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.Q42Q

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.Q42Q
c.126G>A
Surrounding Variants
1 paper
NM_000367.5
p.E43Q
c.127G>C
15 papers
NM_000367.5
p.Q42E
c.124C>G
2 papers
NM_000367.5
p.H41R
c.122A>G
1 paper
NM_000367.5
p.Q44L
c.131A>T
1 paper
NM_000367.5
p.Q44R
c.131A>G
1 paper
NM_000367.5
p.F40L
c.120T>G
1 paper
NM_000367.5
p.F40L
c.120T>A
1 paper
NM_000367.5
p.F40S
c.119T>C
1 paper
NM_000367.5
p.F40L
c.118T>C
1 paper
NM_000367.5
p.A39V
c.116C>T
1 paper
NM_000367.5
p.H46R
c.137A>G
5 papers
NM_000367.5
p.T38T
c.114T>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."