Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.K122_S123Splc

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.K122_S123Splc
c.367-26A>T
Surrounding Variants
1 paper
NM_000367.5
p.K122_S123Splc
c.367-24T>G
1 paper
NM_000367.5
p.K122_S123Splc
c.367-37A>T
1 paper
NM_000367.5
p.K122_S123Splc
c.367-7A>T
1 paper
NM_000367.5
p.K122_S123Splc
c.367-3C>A
1 paper
NM_000367.5
p.S123N
c.368G>A
1 paper
NM_000367.5
p.S123R
c.369T>A
23 papers
NM_000367.5
p.S125L
c.374C>T
1 paper
NM_000367.5
p.G126A
c.377G>C
1 paper
NM_000367.5
p.N127fs
c.379_380fs
1 paper
NM_000367.5
p.G126insFs
c.378dupG
1 paper
NM_000367.5
p.I128V
c.382A>G
1 paper
NM_000367.5
p.I128S
c.383T>G
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