Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.S61R

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.S61R
c.181A>C
Surrounding Variants
2 papers
NM_000367.5
p.K60R
c.179A>G
1 paper
NM_000367.5
p.G59D
c.176G>A
1 paper
NM_000367.5
p.G59fs
c.175_176fs
1 paper
NM_000367.5
p.R64fs
c.190_191fs
1 paper
NM_000367.5
p.R64K
c.191G>A
1 paper
NM_000367.5
p.R64delFs
c.190_191delCT
1 paper
NM_000367.5
p.V65L
c.193G>T
1 paper
NM_000367.5
p.V65L
c.193G>C
1 paper
NM_000367.5
p.F56fs
c.166_167fs
1 paper
NM_000367.5
p.F66I
c.196T>A
1 paper
NM_000367.5
p.F66Y
c.197T>A
1 paper
NM_000367.5
p.T55_F56insG
c.163_167ins3
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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."