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.L29P

c.86T>C

Surrounding Variants

4 papers

NM_005021.5

p.L29F

c.85C>T

1 paper

NM_005021.5

p.V27A

c.80T>C

1 paper

NM_005021.5

p.V27fs

c.79_80fs

1 paper

NM_005021.5

p.V27delFs

c.79delG

1 paper

NM_005021.5

p.G44R

c.130G>A

1 paper

NM_005021.5

p.G44R

c.130G>C

2 papers

NM_005021.5

p.A24D

c.71C>A

1 paper

NM_005021.5

p.K20R

c.59A>G

1 paper

NM_005021.5

p.L18P

c.53T>C

1 paper

NM_005021.5

p.T17A

c.49A>G

1 paper

NM_005021.5

p.V13I

c.37G>A

1 paper

NM_005021.5

p.V13insFs

c.37_38insC