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

2 papers

NM_005021.5

p.R78*

c.232C>T

Surrounding Variants

1 paper

NM_005021.5

p.D77N

c.229G>A

1 paper

NM_005021.5

p.A74S

c.220G>T

1 paper

NM_005021.5

p.W83*

c.248G>A

1 paper

NM_005021.5

p.D72A

c.215A>C

1 paper

NM_005021.5

p.W83*

c.249G>A

1 paper

NM_005021.5

p.C69delFs

c.207delC

1 paper

NM_005021.5

p.C69S

c.205T>A

1 paper

NM_005021.5

p.G65E

c.194G>A

1 paper

NM_005021.5

p.S92A

c.274T>G

1 paper

NM_005021.5

p.S92L

c.275C>T

1 paper

NM_005021.5

p.T93Splc

c.277+5G>A

1 paper

NM_005021.5

p.R94*

c.280C>T