Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.L173R

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.L173R
c.518T>G
Surrounding Variants
1 paper
NM_001385.3
p.L173L
c.517C>T
1 paper
NM_001385.3
p.V170M
c.508G>A
1 paper
NM_001385.3
p.M169L
c.505A>T
1 paper
NM_001385.3
p.M169L
c.505A>C
1 paper
NM_001385.3
p.A178D
c.533C>A
1 paper
NM_001385.3
p.Y168H
c.502T>C
1 paper
NM_001385.3
p.A178A
c.534C>A
1 paper
NM_001385.3
p.D166H
c.496G>C
9 papers
NM_001385.3
p.R181W
c.541C>T
1 paper
NM_001385.3
p.K165R
c.494A>G
1 paper
NM_001385.3
p.Y164Y
c.492T>C
1 paper
NM_001385.3
p.A187A
c.561A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."