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

46 papers

NM_000110.4

p.R21Q

c.62G>A

Surrounding Variants

1 paper

NM_000110.4

p.R21L

c.62G>T

38 papers

NM_000110.4

p.R21*

c.61C>T

1 paper

NM_000110.4

p.R21G

c.61C>G

1 paper

NM_000110.4

p.R21R

c.61C>A

5 papers

NM_000110.4

p.P20P

c.60T>A

1 paper

NM_000110.4

p.P20R

c.59C>G

2 papers

NM_000110.4

p.P20S

c.58C>T

1 paper

NM_000110.4

p.N19fs

c.55_56fs

1 paper

NM_000110.4

p.N19delFs

c.56delT

1 paper

NM_000110.4

p.Q23R

c.68A>G

1 paper

NM_000110.4

p.N19S

c.56A>G

1 paper

NM_000110.4

p.N19fs

c.55_56fs