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.L17L

c.51C>G

Surrounding Variants

1 paper

NM_002150.3

p.R15P

c.44G>C

2 papers

NM_002150.3

p.R15*

c.43C>T

2 papers

NM_002150.3

p.S21P

c.61T>C

1 paper

NM_002150.3

p.S21fs

c.61_62fs

1 paper

NM_002150.3

p.T23A

c.67A>G

1 paper

NM_002150.3

p.E12G

c.35A>G

1 paper

NM_002150.3

p.E12A

c.35A>C

3 papers

NM_002150.3

p.P11P

c.33T>A

1 paper

NM_002150.3

p.T23T

c.69C>T

1 paper

NM_002150.3

p.P11H

c.32C>A

1 paper

NM_002150.3

p.P11A

c.31C>G

1 paper

NM_002150.3

p.W25*

c.74G>A