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.Y139N

c.415T>A

Surrounding Variants

1 paper

NM_002150.3

p.T138_Y139Splc

c.415-1G>A

2 papers

NM_002150.3

p.T138_Y139Splc

c.415-4G>A

1 paper

NM_002150.3

p.T138_Y139Splc

c.415-5C>G

1 paper

NM_002150.3

p.T142T

c.426C>A

1 paper

NM_002150.3

p.H144fs

c.430_431fs

1 paper

NM_002150.3

p.H144insFs

c.430dupC

1 paper

NM_002150.3

p.T138_Y139Splc

c.415-29G>A

1 paper

NM_002150.3

p.K149R

c.446A>G

1 paper

NM_001171993.2

p.Y113N

c.337T>A

1 paper

NM_002150.3

p.K149_N151del3

c.445_452del9

3 papers

NM_002150.3

p.G154S

c.460G>A

1 paper

NM_002150.3

p.Q155fs

c.463_464fs