Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.L217V

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.L217V
c.649C>G
Surrounding Variants
5 papers
NM_000367.5
p.C216*
c.648T>A
1 paper
NM_000367.5
p.C216Y
c.647G>A
1 paper
NM_000367.5
p.C216R
c.646T>C
1 paper
NM_000367.5
p.R215L
c.644G>T
56 papers
NM_000367.5
p.R215H
c.644G>A
1 paper
NM_000367.5
p.C212S
c.635G>C
9 papers
NM_000367.5
p.C212R
c.634T>C
1 paper
NM_000367.5
p.C212S
c.634T>A
2 papers
NM_000367.5
p.A222V
c.665C>T
1 paper
NM_000367.5
p.F223fs
c.667_668fs
1 paper
NM_000367.5
p.E224K
c.670G>A
1 paper
NM_000367.5
p.F223delFs
c.669delA
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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."