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.V754M

c.2260G>A

Surrounding Variants

1 paper

NM_000110.4

p.V754A

c.2261T>C

1 paper

NM_000110.4

p.G755E

c.2264G>A

1 paper

NM_000110.4

p.W751*

c.2253G>A

1 paper

NM_000110.4

p.W751*

c.2252G>A

1 paper

NM_000110.4

p.W751G

c.2251T>G

1 paper

NM_000110.4

p.V754_I756del3

c.2260_2267del9

6 papers

NM_000110.4

p.R759*

c.2275C>T

1 paper

NM_000110.4

p.T749A

c.2245A>G

1 paper

NM_000110.4

p.R759fs

c.2275_2276fs

1 paper

NM_000110.4

p.R759Q

c.2276G>A

2 papers

NM_000110.4

p.G748D

c.2243G>A

1 paper

NM_000110.4

p.G748S

c.2242G>A