Varaico: Literature-Extracted Genetic Variants

ENPP3

166 papers

RefSeq Summary

The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities an...

Pfam Domains

Somatomedin_Baa 52–92UCSCSomatomedin B domain

Somatomedin_Baa 96–136UCSCSomatomedin B domain

Phosphodiestaa 161–486UCSCType I phosphodiesterase / nucleotide pyrophosphatase

Gene Aliases

HGNC Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

HGNC Previous Symbol

PDNP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005021.5

p.D763N

c.2287G>A

Surrounding Variants

1 paper

NM_005021.5

p.F759L

c.2275T>C

1 paper

NM_005021.5

p.P749L

c.2246C>T

1 paper

NM_005021.5

p.N744H

c.2230A>C

1 paper

NM_005021.5

p.W725*

c.2175G>A

1 paper

NM_005021.5

p.W725*

c.2174G>A

1 paper

NM_005021.5

p.V774A

c.2321T>C

1 paper

NM_005021.5

p.P777S

c.2329C>T

3 papers

NM_005021.5

p.S786N

c.2357G>A

1 paper

NM_005021.5

p.P809L

c.2426C>T

1 paper

NM_005021.5

p.P819L

c.2456C>T

1 paper

NM_005021.5

p.V669I

c.2005G>A

1 paper

NM_005021.5

p.P662Q

c.1985C>A