Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.S442*

DPYS

219 papers

RefSeq Summary

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb...

Pfam Domains

Amidohydro_1aa 58–447UCSCAmidohydrolase family

Gene Aliases

HGNC Name

dihydropyrimidinase

HGNC Alias Symbol

DHPase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001385.3
p.S442*
c.1325C>G
Surrounding Variants
1 paper
NM_001385.3
p.S442*
c.1325C>A
2 papers
NM_001385.3
p.Y448H
c.1342T>C
1 paper
NM_001385.3
p.E449K
c.1345G>A
6 papers
NM_001385.3
p.G435R
c.1303G>C
11 papers
NM_001385.3
p.G435R
c.1303G>A
1 paper
NM_001385.3
p.F453I
c.1357T>A
3 papers
NM_001385.3
p.E429A
c.1286A>C
1 paper
NM_001385.3
p.F425C
c.1274T>G
1 paper
NM_001385.3
p.F425V
c.1273T>G
1 paper
NM_001385.3
p.F425I
c.1273T>A
11 papers
NM_001385.3
p.R465*
c.1393C>T
1 paper
NM_001385.3
p.R465Q
c.1394G>A
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