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.A29T

c.85G>A

Surrounding Variants

1 paper

NM_002150.3

p.N28N

c.84C>T

1 paper

NM_002150.3

p.K30K

c.90G>A

1 paper

NM_002150.3

p.Q31*

c.91C>T

1 paper

NM_002150.3

p.Q31K

c.91C>A

1 paper

NM_002150.3

p.Q31R

c.92A>G

1 paper

NM_002150.3

p.W25*

c.75G>A

1 paper

NM_002150.3

p.W25*

c.74G>A

1 paper

NM_002150.3

p.Q31_A32Splc

c.93+3A>G

1 paper

NM_002150.3

p.T23T

c.69C>T

1 paper

NM_002150.3

p.T23A

c.67A>G

2 papers

NM_002150.3

p.S21P

c.61T>C

1 paper

NM_002150.3

p.S21fs

c.61_62fs