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.T52T

c.156C>A

Surrounding Variants

1 paper

NM_002150.3

p.T52T

c.156C>T

1 paper

NM_002150.3

p.G53C

c.157G>T

2 papers

NM_001171993.2

p.G14S

c.40G>A

NM_002150.3

p.G53S

c.157G>A

1 paper

NM_002150.3

p.G53D

c.158G>A

1 paper

NM_002150.3

p.G53insFs

c.158dupG

1 paper

NM_002150.3

p.S54P

c.160T>C

1 paper

NM_002150.3

p.S54fs

c.160_161fs

1 paper

NM_002150.3

p.E51K

c.151G>A

1 paper

NM_002150.3

p.R55W

c.163C>T

1 paper

NM_002150.3

p.G49G

c.147C>A

1 paper

NM_002150.3

p.A46T

c.136G>A

1 paper

NM_002150.3

p.S59fs

c.175_176fs