Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.K191E

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.K191E
c.571A>G
Surrounding Variants
1 paper
NM_000367.5
p.P193S
c.577C>T
1 paper
NM_000367.5
p.P193P
c.579A>G
1 paper
NM_000367.5
p.G194S
c.580G>A
1 paper
NM_000367.5
p.Y187C
c.560A>G
1 paper
NM_000367.5
p.L185R
c.554T>G
1 paper
NM_000367.5
p.G194Splc
c.580+9G>T
1 paper
NM_000367.5
p.G194Splc
c.580+10T>C
1 paper
NM_000367.5
p.V184D
c.551T>A
2 papers
NM_000367.5
p.G194Splc
c.580+14G>T
1 paper
NM_000367.5
p.C183delFs
c.547delA
1 paper
NM_000367.5
p.C183fs
c.547_548fs
1 paper
NM_000367.5
p.L182P
c.545T>C
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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."