Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.W285S

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.W285S
c.854G>C
Surrounding Variants
1 paper
NM_001385.3
p.W289delFs
c.867delC
1 paper
NM_001385.3
p.A292T
c.874G>A
10 papers
NM_001385.3
p.G278D
c.833G>A
1 paper
NM_001385.3
p.A293V
c.878C>T
1 paper
NM_001385.3
p.A275A
c.825C>G
6 papers
NM_001385.3
p.H295R
c.884A>G
1 paper
NM_001385.3
p.A275T
c.823G>A
1 paper
NM_001385.3
p.V296V
c.888C>T
1 paper
NM_001385.3
p.P272insFs
c.814_815insA
1 paper
NM_001385.3
p.E271K
c.811G>A
11 papers
NM_001385.3
p.R302Q
c.905G>A
1 paper
NM_001385.3
p.V267E
c.800T>A
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