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

1 paper

NM_002150.3

p.S226A

c.676T>G

Surrounding Variants

1 paper

NM_002150.3

p.R225L

c.674G>T

1 paper

NM_002150.3

p.S223C

c.668C>G

2 papers

NM_002150.3

p.S223A

c.667T>G

1 paper

NM_002150.3

p.A230T

c.688G>A

1 paper

NM_002150.3

p.Y221_S222insFs

c.663_664insTT

1 paper

NM_002150.3

p.T219M

c.656C>T

1 paper

NM_002150.3

p.T219A

c.655A>G

1 paper

NM_002150.3

p.V217A

c.650T>C

1 paper

NM_002150.3

p.A230_E234delins

c.690_702delinsCACCTGAACCCCC

2 papers

NM_002150.3

p.I236insFs

c.708dupC

1 paper

NM_002150.3

p.K237R

c.710A>G

2 papers

NM_002150.3

p.P239T

c.715C>A