Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.R140Splc

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.R140Splc
c.420-2A>G
Surrounding Variants
1 paper
NM_000367.5
p.R140Splc
c.420-1G>A
2 papers
NM_000367.5
p.R140Splc
c.420-4G>A
2 papers
NM_000367.5
p.I143V
c.427A>G
19 papers
NM_000367.5
p.G144R
c.430G>C
1 paper
NM_000367.5
p.K145_F146del2
c.433_437del6
1 paper
NM_000367.5
p.I149T
c.446T>C
1 paper
NM_000367.5
p.W150G
c.448T>G
1 paper
NM_000367.5
p.W150*
c.449G>A
2 papers
NM_000367.5
p.D151Y
c.451G>T
1 paper
NM_000367.5
p.R152G
c.454A>G
1 paper
NM_000367.5
p.R152T
c.455G>C
1 paper
NM_000367.5
p.R152K
c.455G>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."