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.I274I

c.822C>A

Surrounding Variants

1 paper

NM_002150.3

p.E272G

c.815A>G

1 paper

NM_002150.3

p.A277A

c.831G>A

1 paper

NM_002150.3

p.T271T

c.813C>T

4 papers

NM_002150.3

p.A277_I278Splc

c.831+1G>A

NM_001171993.2

p.A238_I239Splc

c.714+1G>A

1 paper

NM_002150.3

p.T271A

c.811A>G

1 paper

NM_002150.3

p.A277_I278Splc

c.831+5G>T

2 papers

NM_002150.3

p.L269delFs

c.805delG

8 papers

NM_002150.3

p.A268V

c.803C>T

NM_001171993.2

p.A229V

c.686C>T

1 paper

NM_002150.3

p.I267F

c.799A>T

1 paper

NM_002150.3

p.Q265E

c.793C>G

2 papers

NM_002150.3

p.A262T

c.784G>A

1 paper

NM_002150.3

p.G261D

c.782G>A