Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.V18I

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
19 papers
NM_000367.5
p.V18I
c.52G>A
Surrounding Variants
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.T16T
c.48T>C
1 paper
NM_000367.5
p.D15N
c.43G>A
2 papers
NM_000367.5
p.N21D
c.61A>G
1 paper
NM_000367.5
p.E12_Y13insFs
c.36_37ins5
9 papers
NM_000367.5
p.E12_Y13ins2
c.36_37ins6
1 paper
NM_000367.5
p.E12K
c.34G>A
1 paper
NM_000367.5
p.V23del1
c.67_68delTAC
1 paper
NM_000367.5
p.E11insFs
c.32_33insT
3 papers
NM_000367.5
p.I10I
c.30T>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."