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.F128I

c.382T>A

Surrounding Variants

2 papers

NM_002150.3

p.K127K

c.381G>A

1 paper

NM_002150.3

p.G129E

c.386G>A

1 paper

NM_002150.3

p.D126N

c.376G>A

1 paper

NM_002150.3

p.F133S

c.398T>C

4 papers

NM_002150.3

p.A134D

c.401C>A

1 paper

NM_002150.3

p.V135L

c.403G>T

1 paper

NM_002150.3

p.E120E

c.360G>A

1 paper

NM_002150.3

p.R119_E120del1

c.356_358delCCC

1 paper

NM_002150.3

p.R119Q

c.356G>A

1 paper

NM_002150.3

p.R119R

c.355C>A

1 paper

NM_002150.3

p.T138A

c.412A>G

2 papers

NM_002150.3

p.T138T

c.414G>A