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.I95delFs

c.284delT

Surrounding Variants

1 paper

NM_005021.5

p.R94*

c.280C>T

2 papers

NM_005021.5

p.N99S

c.296A>G

1 paper

NM_005021.5

p.R102H

c.305G>A

1 paper

NM_005021.5

p.C103Y

c.308G>A

1 paper

NM_005021.5

p.E105G

c.314A>G

1 paper

NM_005021.5

p.S116S

c.348A>G

1 paper

NM_005021.5

p.K130T

c.389A>C

1 paper

NM_005021.5

p.C133R

c.397T>C

1 paper

NM_005021.5

p.P153L

c.458C>T

1 paper

NM_005021.5

p.G155Splc

c.464+113C>T

1 paper

NM_005021.5

p.T93Splc

c.277+5G>A

1 paper

NM_005021.5

p.S92L

c.275C>T