Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.W33fs

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.W33fs
c.97_98fs
Surrounding Variants
2 papers
NM_000367.5
p.W33G
c.97T>G
1 paper
NM_000367.5
p.D31_K32delFs
c.92_96del5
2 papers
NM_000367.5
p.W33L
c.98G>T
2 papers
NM_000367.5
p.K32N
c.96G>T
2 papers
NM_000367.5
p.K32insFs
c.95_96insA
1 paper
NM_000367.5
p.K32insFs
c.94_95ins4
1 paper
NM_000367.5
p.K32fs
c.94_95fs
1 paper
NM_000367.5
p.V34V
c.102G>A
1 paper
NM_000367.5
p.D31fs
c.91_92fs
2 papers
NM_000367.5
p.N35N
c.105C>T
2 papers
NM_000367.5
p.G36C
c.106G>T
1 paper
NM_000367.5
p.G36_K37ins5
c.106_110ins15
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