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.I322T

c.965T>C

Surrounding Variants

1 paper

NM_002150.3

p.I322I

c.966C>A

1 paper

NM_002150.3

p.V324V

c.972G>A

1 paper

NM_002150.3

p.D325E

c.975C>G

1 paper

NM_002150.3

p.D325E

c.975C>A

1 paper

NM_002150.3

p.Y326Y

c.978C>T

1 paper

NM_002150.3

p.Y326*

c.978C>G

1 paper

NM_002150.3

p.Y326*

c.978C>A

1 paper

NM_002150.3

p.E318_E319Splc

c.955-7C>G

1 paper

NM_002150.3

p.Q334*

c.1000C>T

13 papers

NM_002150.3

p.I335M

c.1005C>G

NM_001171993.2

p.I296M

c.888C>G

1 paper

NM_002150.3

p.T337A

c.1009A>G

2 papers

NM_002150.3

p.K338I

c.1013A>T