Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.W117R

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
2 papers
NM_001385.3
p.W117R
c.349T>A
Surrounding Variants
2 papers
NM_001385.3
p.W117R
c.349T>C
1 paper
NM_001385.3
p.W117*
c.350G>A
1 paper
NM_001385.3
p.W117*
c.351G>A
1 paper
NM_001385.3
p.E115D
c.345G>T
3 papers
NM_001385.3
p.R118Q
c.353G>A
1 paper
NM_001385.3
p.R118R
c.354A>G
1 paper
NM_001385.3
p.W120*
c.360G>A
1 paper
NM_001385.3
p.E112K
c.334G>A
1 paper
NM_001385.3
p.P123P
c.369C>G
1 paper
NM_001385.3
p.S109A
c.325T>G
1 paper
NM_001385.3
p.G108G
c.324C>A
1 paper
NM_001385.3
p.G107V
c.320G>T
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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."