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

1–12 of 139 variants

4 papers

NM_005021.5

p.L29F

c.85C>T

3 papers

NM_005021.5

p.S786N

c.2357G>A

2 papers

NM_005021.5

p.M1I

c.3G>A

2 papers

NM_005021.5

p.A24D

c.71C>A

2 papers

NM_005021.5

p.L29P

c.86T>C

2 papers

NM_005021.5

p.R78*

c.232C>T

2 papers

NM_005021.5

p.N99S

c.296A>G

2 papers

NM_005021.5

p.Y261*

c.783T>A

2 papers

NM_005021.5

p.G273*

c.817G>T

1 paper

NM_005021.5

p.M1I

c.3G>C

1 paper

NM_005021.5

p.M1I

c.3G>T

1 paper

NM_005021.5

p.E2K

c.4G>A