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.D414G

c.1241A>G

Surrounding Variants

3 papers

NM_000110.4

p.E415*

c.1243G>T

1 paper

NM_000110.4

p.Q413K

c.1237C>A

1 paper

NM_000110.4

p.E412D

c.1236G>T

269 papers

NM_000110.4

p.E412E

c.1236G>A

2 papers

NM_000110.4

p.G417R

c.1249G>A

1 paper

NM_000110.4

p.T416delFs

c.1248delA

1 paper

NM_000110.4

p.G417fs

c.1249_1250fs

1 paper

NM_000110.4

p.T411R

c.1232C>G

1 paper

NM_000110.4

p.T411P

c.1231A>C

5 papers

NM_000110.4

p.R410Q

c.1229G>A

3 papers

NM_000110.4

p.R410W

c.1228C>T

1 paper

NM_000110.4

p.N420ins2

c.1259_1260ins6