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

8 papers

NM_002150.3

p.Y160C

c.479A>G

NM_001171993.2

p.Y121C

c.362A>G

Surrounding Variants

2 papers

NM_002150.3

p.E161K

c.481G>A

1 paper

NM_002150.3

p.A162V

c.485C>T

1 paper

NM_002150.3

p.P158L

c.473C>T

1 paper

NM_002150.3

p.P158R

c.473C>G

1 paper

NM_002150.3

p.Q155delFs

c.463delG

1 paper

NM_002150.3

p.Q155fs

c.463_464fs

1 paper

NM_002150.3

p.M166I

c.498G>T

1 paper

NM_002150.3

p.M166I

c.498G>C

3 papers

NM_002150.3

p.G154S

c.460G>A

1 paper

NM_002150.3

p.M166I

c.498G>A

2 papers

NM_002150.3

p.D167N

c.499G>A

1 paper

NM_001171993.2

p.Y113N

c.337T>A