Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.T329S

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.T329S
c.985A>T
Surrounding Variants
1 paper
NM_001385.3
p.T329S
c.986C>G
1 paper
NM_001385.3
p.Q334K
c.1000C>A
21 papers
NM_001385.3
p.Q334R
c.1001A>G
5 papers
NM_001385.3
p.L337P
c.1010T>C
1 paper
NM_001385.3
p.D319Y
c.955G>T
4 papers
NM_001385.3
p.T343A
c.1027A>G
1 paper
NM_001385.3
p.N350K
c.1050T>A
1 paper
NM_001385.3
p.D354G
c.1061A>G
1 paper
NM_001385.3
p.I359L
c.1075A>T
1 paper
NM_001385.3
p.I359L
c.1075A>C
11 papers
NM_001385.3
p.W360R
c.1078T>C
12 papers
NM_001385.3
p.W360R
c.1078T>A
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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."