Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.K88_A89Splc

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
8 papers
NM_001385.3
p.K88_A89Splc
c.265-58T>C
Surrounding Variants
3 papers
NM_001385.3
p.K88_A89Splc
c.265-2A>G
1 paper
NM_001385.3
p.A90T
c.268G>A
1 paper
NM_001385.3
p.T95T
c.285C>T
1 paper
NM_001385.3
p.M97I
c.291G>A
1 paper
NM_001385.3
p.I98F
c.292A>T
2 papers
NM_001385.3
p.D100H
c.298G>C
1 paper
NM_001385.3
p.D100N
c.298G>A
2 papers
NM_001385.3
p.F101L
c.301T>C
2 papers
NM_001385.3
p.F101L
c.303C>G
2 papers
NM_001385.3
p.F101L
c.303C>A
1 paper
NM_001385.3
p.G107V
c.320G>T
1 paper
NM_001385.3
p.G108G
c.324C>A
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