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.F295_E296insFs

c.885_886ins8

Surrounding Variants

1 paper

NM_005021.5

p.F295insFs

c.884_885ins8

1 paper

NM_005021.5

p.E322A

c.965A>C

1 paper

NM_005021.5

p.R337_V338Splc

c.1011+6T>C

1 paper

NM_005021.5

p.N290N

c.870C>T

1 paper

NM_005021.5

p.N290H

c.868A>C

1 paper

NM_005021.5

p.I285K

c.854T>A

2 papers

NM_005021.5

p.G273*

c.817G>T

1 paper

NM_005021.5

p.Y269Y

c.807C>T

2 papers

NM_005021.5

p.Y261*

c.783T>A

1 paper

NM_005021.5

p.Y261*

c.783T>G

1 paper

NM_005021.5

p.M255_A267delFs

c.765_799del35

1 paper

NM_005021.5

p.F237_S238insT

c.709_713ins3