Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.T25I

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.T25I
c.74C>T
Surrounding Variants
1 paper
NM_000367.5
p.V23del1
c.67_68delTAC
1 paper
NM_000367.5
p.E27Q
c.79G>C
2 papers
NM_000367.5
p.E27K
c.79G>A
11 papers
NM_000367.5
p.E28V
c.83A>T
3 papers
NM_000367.5
p.W29R
c.85T>C
1 paper
NM_000367.5
p.W29R
c.85T>A
2 papers
NM_000367.5
p.N21D
c.61A>G
1 paper
NM_000367.5
p.D31fs
c.91_92fs
1 paper
NM_000367.5
p.Q19insFs
c.55_56insG
2 papers
NM_000367.5
p.Q19ins2
c.55_56ins6
1 paper
NM_000367.5
p.V18del1
c.52_53delTAC
1 paper
NM_000367.5
p.K32fs
c.94_95fs
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."