Varaico: Literature-Extracted Genetic Variants

HPD

199 papers

RefSeq Summary

The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a...

Pfam Domains

Glyoxalaseaa 18–147UCSCGlyoxalase/Bleomycin resistance protein/Dioxygenase superfamily

Glyoxalaseaa 180–335UCSCGlyoxalase/Bleomycin resistance protein/Dioxygenase superfamily

Gene Aliases

HGNC Name

4-hydroxyphenylpyruvate dioxygenase

HGNC Previous Symbol

PPD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002150.3

p.G83D

c.248G>A

Surrounding Variants

1 paper

NM_002150.3

p.G83S

c.247G>A

1 paper

NM_002150.3

p.G83G

c.249C>T

2 papers

NM_002150.3

p.G83delFs

c.248delC

1 paper

NM_002150.3

p.G83fs

c.247_248fs

1 paper

NM_002150.3

p.D84N

c.250G>A

1 paper

NM_002150.3

p.E81Splc

c.242-1G>A

2 papers

NM_002150.3

p.K88*

c.262A>T

1 paper

NM_002150.3

p.G90S

c.268G>A

1 paper

NM_002150.3

p.D91D

c.273C>T

2 papers

NM_002150.3

p.G92R

c.274G>C

1 paper

NM_002150.3

p.G92R

c.274G>A

1 paper

NM_002150.3

p.V93M

c.277G>A