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

5 papers

NM_002150.3

p.T33A

c.97A>G

Surrounding Variants

1 paper

NM_002150.3

p.T33M

c.98C>T

1 paper

NM_002150.3

p.Q31_A32Splc

c.94-1G>A

1 paper

NM_002150.3

p.F35S

c.104T>C

1 paper

NM_002150.3

p.Y36H

c.106T>C

1 paper

NM_002150.3

p.Q31_A32Splc

c.94-6A>T

1 paper

NM_002150.3

p.C37R

c.109T>C

1 paper

NM_001171993.2

p.M1K

c.2T>A

1 paper

NM_002150.3

p.E43A

c.128A>C

1 paper

NM_002150.3

p.P44delFs

c.131delG

1 paper

NM_002150.3

p.A46T

c.136G>A

1 paper

NM_002150.3

p.G49G

c.147C>A

1 paper

NM_002150.3

p.E51K

c.151G>A