Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.W78C

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.W78C
c.234G>T
Surrounding Variants
1 paper
NM_000367.5
p.W78C
c.234G>C
1 paper
NM_000367.5
p.W78*
c.234G>A
1 paper
NM_000367.5
p.W78*
c.233G>A
2 papers
NM_000367.5
p.W78R
c.232T>C
2 papers
NM_000367.5
p.W78R
c.232T>A
343 papers
NM_000367.5
p.A80P
c.238G>C
2 papers
NM_000367.5
p.A80T
c.238G>A
7 papers
NM_000367.5
p.R82W
c.244C>T
2 papers
NM_000367.5
p.R82G
c.244C>G
2 papers
NM_000367.5
p.G83V
c.248G>T
2 papers
NM_000367.5
p.G83A
c.248G>C
1 paper
NM_000367.5
p.G83E
c.248G>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."