Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.V89_L94delFs

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.V89_L94delFs
c.266_282del17
Surrounding Variants
1 paper
NM_000367.5
p.G95_I96insA
c.283_287ins3
2 papers
NM_000367.5
p.G95R
c.283G>C
1 paper
NM_000367.5
p.G95fs
c.283_284fs
1 paper
NM_000367.5
p.L94insFs
c.281_282insA
39 papers
NM_000367.5
p.E98*
c.292G>T
1 paper
NM_000367.5
p.I91M
c.273C>G
1 paper
NM_000367.5
p.I91L
c.271A>C
1 paper
NM_000367.5
p.E90V
c.269A>T
1 paper
NM_000367.5
p.V89E
c.266T>A
1 paper
NM_000367.5
p.V89fs
c.265_266fs
1 paper
NM_000367.5
p.G88C
c.262G>T
3 papers
NM_000367.5
p.G88S
c.262G>A
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