Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.K228N

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.K228N
c.684A>T
Surrounding Variants
1 paper
NM_000367.5
p.K228N
c.684A>C
41 papers
NM_000367.5
p.H227Q
c.681T>G
10 papers
NM_000367.5
p.H227Q
c.681T>A
8 papers
NM_000367.5
p.R226Q
c.677G>A
1 paper
NM_000367.5
p.G231V
c.692G>T
4 papers
NM_000367.5
p.R226*
c.676C>T
6 papers
NM_000367.5
p.E225G
c.674A>G
1 paper
NM_000367.5
p.I232I
c.696T>C
1 paper
NM_000367.5
p.E224K
c.670G>A
1 paper
NM_000367.5
p.F223delFs
c.669delA
2 papers
NM_000367.5
p.D233V
c.698A>T
1 paper
NM_000367.5
p.F223fs
c.667_668fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."