Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.F56fs

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.F56fs
c.166_167fs
Surrounding Variants
1 paper
NM_000367.5
p.T55_F56insG
c.163_167ins3
2 papers
NM_000367.5
p.T55_F56ins6
c.163_167ins18
1 paper
NM_000367.5
p.G59fs
c.175_176fs
1 paper
NM_000367.5
p.G59D
c.176G>A
2 papers
NM_000367.5
p.K60R
c.179A>G
1 paper
NM_000367.5
p.H52H
c.156T>C
1 paper
NM_000367.5
p.S61R
c.181A>C
1 paper
NM_000367.5
p.H52delFs
c.154delG
1 paper
NM_000367.5
p.H52fs
c.154_155fs
1 paper
NM_000367.5
p.H52D
c.154C>G
1 paper
NM_000367.5
p.K50_K51delFs
c.149_152del4
2 papers
NM_000367.5
p.K50fs
c.148_149fs
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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."