Varaico: Literature-Extracted Genetic Variants

DPYD

1,264 papers

RefSeq Summary

The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropy...

Pfam Domains

Fer4_20aa 55–168UCSCDihydroprymidine dehydrogenase domain II, 4Fe-4S cluster

Pyr_redox_2aa 188–499UCSCPyridine nucleotide-disulphide oxidoreductase

DHO_dhaa 532–838UCSCDihydroorotate dehydrogenase

Fer4_21aa 946–1004UCSC4Fe-4S dicluster domain

Gene Aliases

HGNC Name

dihydropyrimidine dehydrogenase

HGNC Alias Symbols

DPD; DHPDHase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000110.4

p.E376_M377Splc

c.1129-2A>C

Surrounding Variants

1 paper

NM_000110.4

p.M377fs

c.1129_1130fs

1 paper

NM_000110.4

p.M377V

c.1129A>G

1 paper

NM_000110.4

p.M377_E378ins4

c.1131_1132ins12

1 paper

NM_000110.4

p.M377I

c.1131G>A

1 paper

NM_000110.4

p.E378Q

c.1132G>C

1 paper

NM_000110.4

p.L379F

c.1135C>T

1 paper

NM_000110.4

p.M377_L379delFs

c.1129_1136del8

3 papers

NM_000110.4

p.A380V

c.1139C>T

3 papers

NM_000110.4

p.A380G

c.1139C>G

27 papers

NM_000110.4

p.E376_M377Splc

c.1129-15T>C

2 papers

NM_000110.4

p.A380A

c.1140T>C

2 papers

NM_000110.4

p.K381R

c.1142A>G