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.K248R

c.743A>G

Surrounding Variants

1 paper

NM_002150.3

p.Q251E

c.751C>G

1 paper

NM_002150.3

p.P245A

c.733C>G

1 paper

NM_002150.3

p.A244V

c.731C>T

2 papers

NM_002150.3

p.I252I

c.756C>A

1 paper

NM_002150.3

p.P243P

c.729A>C

1 paper

NM_002150.3

p.P243_A244insFs

c.729_730insTT

1 paper

NM_002150.3

p.P243T

c.727C>A

1 paper

NM_002150.3

p.Q253_E254Splc

c.759+1G>A

1 paper

NM_002150.3

p.P239_N241delFs

c.716_722del7

1 paper

NM_002150.3

p.N241I

c.722A>T

7 papers

NM_002150.3

p.N241S

c.722A>G

1 paper

NM_002150.3

p.Q253_E254Splc

c.759+8C>T