Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.K362fs

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.K362fs
c.1084_1085fs
Surrounding Variants
2 papers
NM_001385.3
p.K362delFs
c.1086delT
6 papers
NM_001385.3
p.V364M
c.1090G>A
11 papers
NM_001385.3
p.W360R
c.1078T>C
12 papers
NM_001385.3
p.W360R
c.1078T>A
1 paper
NM_001385.3
p.I359L
c.1075A>T
1 paper
NM_001385.3
p.I359L
c.1075A>C
1 paper
NM_001385.3
p.V364_H365Splc
c.1092+9C>T
1 paper
NM_001385.3
p.D354G
c.1061A>G
1 paper
NM_001385.3
p.N350K
c.1050T>A
4 papers
NM_001385.3
p.T343A
c.1027A>G
5 papers
NM_001385.3
p.L337P
c.1010T>C
21 papers
NM_001385.3
p.Q334R
c.1001A>G
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