Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.G161_D162delFs

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
2 papers
NM_000367.5
p.G161_D162delFs
c.483_484delCA
Surrounding Variants
2 papers
NM_000367.5
p.D162fs
c.484_485fs
1 paper
NM_000367.5
p.G161G
c.483T>A
10 papers
NM_000367.5
p.R163C
c.487C>T
1 paper
NM_000367.5
p.R163S
c.487C>A
10 papers
NM_000367.5
p.R163P
c.488G>C
24 papers
NM_000367.5
p.R163H
c.488G>A
1 paper
NM_000367.5
p.P160A
c.478C>G
14 papers
NM_000367.5
p.I158I
c.474C>T
1 paper
NM_000367.5
p.I158V
c.472A>G
1 paper
NM_000367.5
p.A157T
c.469G>A
1 paper
NM_000367.5
p.L155*
c.464T>G
2 papers
NM_000367.5
p.L155S
c.464T>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."