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.L346L

c.1038C>T

Surrounding Variants

1 paper

NM_002150.3

p.E349Q

c.1045G>C

1 paper

NM_002150.3

p.E349G

c.1046A>G

1 paper

NM_002150.3

p.E349A

c.1046A>C

1 paper

NM_002150.3

p.V350A

c.1049T>C

1 paper

NM_002150.3

p.V340V

c.1020G>A

2 papers

NM_002150.3

p.V340L

c.1018G>T

2 papers

NM_002150.3

p.V340L

c.1018G>C

1 paper

NM_002150.3

p.V340M

c.1018G>A

1 paper

NM_002150.3

p.P339P

c.1017G>T

1 paper

NM_002150.3

p.P339P

c.1017G>A

1 paper

NM_002150.3

p.R353R

c.1059C>T

1 paper

NM_002150.3

p.P339R

c.1016C>G