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.G114G

c.342C>T

Surrounding Variants

1 paper

NM_002150.3

p.G114_A115insFs

c.342_343ins4

1 paper

NM_002150.3

p.G114_A115insFs

c.342_343ins4

2 papers

NM_002150.3

p.G114D

c.341G>A

2 papers

NM_002150.3

p.A115fs

c.343_344fs

1 paper

NM_002150.3

p.A115A

c.345C>T

2 papers

NM_002150.3

p.R113Q

c.338G>A

3 papers

NM_002150.3

p.R111W

c.331C>T

1 paper

NM_002150.3

p.R119R

c.355C>A

1 paper

NM_002150.3

p.R119Q

c.356G>A

1 paper

NM_002150.3

p.A110T

c.328G>A

1 paper

NM_002150.3

p.R119_E120del1

c.356_358delCCC

1 paper

NM_002150.3

p.Q108_K109Splc

c.325-1G>T