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

2 papers

NM_002150.3

p.E99V

c.296A>T

Surrounding Variants

2 papers

NM_002150.3

p.E99Q

c.295G>C

1 paper

NM_002150.3

p.V100M

c.298G>A

1 paper

NM_002150.3

p.E101K

c.301G>A

1 paper

NM_002150.3

p.A97A

c.291G>A

1 paper

NM_002150.3

p.A97V

c.290C>T

1 paper

NM_002150.3

p.I96I

c.288T>A

1 paper

NM_002150.3

p.D102E

c.306T>A

1 paper

NM_002150.3

p.I96V

c.286A>G

1 paper

NM_002150.3

p.C103S

c.307T>A

1 paper

NM_002150.3

p.D95delFs

c.284delT

1 paper

NM_002150.3

p.C103S

c.308G>C

1 paper

NM_002150.3

p.C103Y

c.308G>A