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.P77T

c.229C>A

Surrounding Variants

1 paper

NM_002150.3

p.P77H

c.230C>A

2 papers

NM_002150.3

p.W78R

c.232T>C

5 papers

NM_002150.3

p.W78*

c.233G>A

1 paper

NM_002150.3

p.L75V

c.223C>G

1 paper

NM_002150.3

p.A74A

c.222G>T

1 paper

NM_002150.3

p.K80N

c.240A>T

2 papers

NM_002150.3

p.S73P

c.217T>C

1 paper

NM_002150.3

p.E81K

c.241G>A

1 paper

NM_002150.3

p.L71V

c.211C>G

1 paper

NM_002150.3

p.V70del1

c.208_210delGAC

1 paper

NM_002150.3

p.V68_F69delFs

c.204_205delAC

1 paper

NM_002150.3

p.F69fs

c.205_206fs