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.V427I

c.1279G>A

Surrounding Variants

1 paper

NM_000110.4

p.M426_V427delins

c.1278_1279delinsAT

7 papers

NM_000110.4

p.V427A

c.1280T>C

6 papers

NM_000110.4

p.M426I

c.1278G>T

4 papers

NM_000110.4

p.M426I

c.1278G>C

4 papers

NM_000110.4

p.M426I

c.1278G>A

1 paper

NM_000110.4

p.H428R

c.1283A>G

1 paper

NM_000110.4

p.Q425R

c.1274A>G

1 paper

NM_000110.4

p.Q425*

c.1273C>T

1 paper

NM_000110.4

p.L429R

c.1286T>G

1 paper

NM_000110.4

p.D424E

c.1272T>G

1 paper

NM_000110.4

p.D424E

c.1272T>A

1 paper

NM_000110.4

p.D424V

c.1271A>T