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.N44fs

c.130_131fs

Surrounding Variants

1 paper

NM_000110.4

p.N44S

c.131A>G

1 paper

NM_000110.4

p.R43fs

c.127_128fs

1 paper

NM_000110.4

p.N44K

c.132T>A

1 paper

NM_000110.4

p.R43K

c.128G>A

1 paper

NM_000110.4

p.N44insFs

c.132dupT

1 paper

NM_000110.4

p.R43fs

c.127_128fs

2 papers

NM_000110.4

p.R43_P45delFs

c.127_134del8

1 paper

NM_000110.4

p.K42R

c.125A>G

1 paper

NM_000110.4

p.W41C

c.123G>C

1 paper

NM_000110.4

p.W41*

c.123G>A

1 paper

NM_000110.4

p.D46G

c.137A>G

1 paper

NM_000110.4

p.W41*

c.122G>A