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.H207Y

c.619C>T

Surrounding Variants

1 paper

NM_002150.3

p.F206Y

c.617T>A

1 paper

NM_002150.3

p.L204_Q205del2

c.610_614del6

1 paper

NM_002150.3

p.R208_F209insFs

c.624_625insA

1 paper

NM_002150.3

p.Q205*

c.613C>T

2 papers

NM_002150.3

p.F209insFs

c.625dupT

1 paper

NM_002150.3

p.R208_W210del3

c.622_629del9

4 papers

NM_002150.3

p.V212M

c.634G>A

1 paper

NM_002150.3

p.L204_V212delins

c.612_635delinsAATTGAGTCTTAGAAAAGTTAAGC

6 papers

NM_002150.3

p.Y200*

c.600C>G

NM_001171993.2

p.Y161*

c.483C>G

6 papers

NM_002150.3

p.Y200*

c.600C>A

NM_001171993.2

p.Y161*

c.483C>A

1 paper

NM_002150.3

p.V217A

c.650T>C

1 paper

NM_002150.3

p.T219A

c.655A>G