Varaico: Literature-Extracted Genetic Variants

ENPP2

128 papers

RefSeq Summary

The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysopho...

Pfam Domains

Somatomedin_Baa 57–97UCSCSomatomedin B domain

Somatomedin_Baa 101–141UCSCSomatomedin B domain

Phosphodiestaa 166–478UCSCType I phosphodiesterase / nucleotide pyrophosphatase

Endonuclease_NSaa 601–845UCSCDNA/RNA non-specific endonuclease

Gene Aliases

HGNC Name

ectonucleotide pyrophosphatase/phosphodiesterase 2

HGNC Previous Symbol

PDNP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001040092.3

p.I228M

c.684T>G

Surrounding Variants

1 paper

NM_001040092.3

p.G230S

c.688G>A

1 paper

NM_001040092.3

p.H226Q

c.678T>G

1 paper

NM_001040092.3

p.H226Q

c.678T>A

1 paper

NM_001040092.3

p.D235N

c.703G>A

1 paper

NM_001040092.3

p.D239N

c.715G>A

1 paper

NM_001040092.3

p.G257S

c.769G>A

1 paper

NM_001040092.3

p.A218V

c.653C>T

1 paper

NM_001040092.3

p.T216ins1

c.647_648insTCA

1 paper

NM_001040092.3

p.L214delFs

c.640delA

1 paper

NM_001040092.3

p.N213S

c.638A>G

1 paper

NM_001040092.3

p.P212H

c.635C>A

1 paper

NM_001040092.3

p.F211L

c.633T>G