Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.R490G

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.R490G
c.1468C>G
Surrounding Variants
12 papers
NM_001385.3
p.R490C
c.1468C>T
9 papers
NM_001385.3
p.R490H
c.1469G>A
1 paper
NM_001385.3
p.C483F
c.1448G>T
3 papers
NM_001385.3
p.R481_T482Splc
c.1444-1G>A
1 paper
NM_001385.3
p.K501*
c.1501A>T
2 papers
NM_001385.3
p.R503fs
c.1507_1508fs
2 papers
NM_001385.3
p.S502delFs
c.1506delG
1 paper
NM_001385.3
p.S502_R503delFs
c.1506_1507delTG
1 paper
NM_001385.3
p.V504M
c.1510G>A
1 paper
NM_001385.3
p.E507fs
c.1519_1520fs
2 papers
NM_001385.3
p.T513A
c.1537A>G
1 paper
NM_001385.3
p.R514K
c.1541G>A
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