Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.L155*

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.L155*
c.464T>A
Surrounding Variants
1 paper
NM_000367.5
p.L155*
c.464T>G
2 papers
NM_000367.5
p.L155S
c.464T>C
1 paper
NM_000367.5
p.A154S
c.460G>T
2 papers
NM_000367.5
p.A154P
c.460G>C
424 papers
NM_000367.5
p.A154T
c.460G>A
1 paper
NM_000367.5
p.A157T
c.469G>A
1 paper
NM_000367.5
p.I158V
c.472A>G
1 paper
NM_000367.5
p.R152R
c.456A>G
1 paper
NM_000367.5
p.R152T
c.455G>C
1 paper
NM_000367.5
p.R152K
c.455G>A
14 papers
NM_000367.5
p.I158I
c.474C>T
1 paper
NM_000367.5
p.R152G
c.454A>G
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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."