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.E2K

c.4G>A

Surrounding Variants

2 papers

NM_005021.5

p.M1I

c.3G>A

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.S3insFs

c.8_9insT

1 paper

NM_005021.5

p.L5insFs

c.14_15insA

1 paper

NM_005021.5

p.A8E

c.23C>A

1 paper

NM_005021.5

p.T9S

c.25A>T

1 paper

NM_005021.5

p.V13I

c.37G>A

1 paper

NM_005021.5

p.V13insFs

c.37_38insC

1 paper

NM_005021.5

p.T17A

c.49A>G

1 paper

NM_005021.5

p.L18P

c.53T>C

1 paper

NM_005021.5

p.K20R

c.59A>G