Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.F425V

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.F425V
c.1273T>G
Surrounding Variants
1 paper
NM_001385.3
p.F425I
c.1273T>A
1 paper
NM_001385.3
p.F425C
c.1274T>G
3 papers
NM_001385.3
p.E429A
c.1286A>C
1 paper
NM_001385.3
p.H419R
c.1256A>G
2 papers
NM_001385.3
p.T418_H419delFs
c.1254_1255delGA
5 papers
NM_001385.3
p.T418I
c.1253C>T
6 papers
NM_001385.3
p.G435R
c.1303G>C
11 papers
NM_001385.3
p.G435R
c.1303G>A
10 papers
NM_001385.3
p.R412R
c.1236G>A
6 papers
NM_001385.3
p.R412M
c.1235G>T
1 paper
NM_001385.3
p.S442*
c.1325C>G
1 paper
NM_001385.3
p.S442*
c.1325C>A
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