Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.F67S

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
3 papers
NM_000367.5
p.F67S
c.200T>C
Surrounding Variants
1 paper
NM_000367.5
p.P68S
c.202C>T
1 paper
NM_000367.5
p.P68T
c.202C>A
1 paper
NM_000367.5
p.F66delFs
c.198delA
1 paper
NM_000367.5
p.F66Y
c.197T>A
3 papers
NM_000367.5
p.P68L
c.203C>T
1 paper
NM_000367.5
p.F66I
c.196T>A
1 paper
NM_000367.5
p.L69F
c.205C>T
14 papers
NM_000367.5
p.L69V
c.205C>G
1 paper
NM_000367.5
p.V65L
c.193G>T
1 paper
NM_000367.5
p.V65L
c.193G>C
1 paper
NM_000367.5
p.R64delFs
c.190_191delCT
1 paper
NM_000367.5
p.C70fs
c.208_209fs
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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."