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

1–12 of 117 variants

3 papers

NM_001040092.3

p.T210A

c.628A>G

2 papers

NM_001040092.3

p.R4R

c.12G>A

2 papers

NM_001040092.3

p.I228M

c.684T>G

2 papers

NM_001040092.3

p.S493P

c.1477T>C

1 paper

NM_001040092.3

p.A2T

c.4G>A

1 paper

NM_001040092.3

p.F7L

c.21C>G

1 paper

NM_001040092.3

p.Q8ins1

c.23_24insGGG

1 paper

NM_001040092.3

p.C10delFs

c.28delA

1 paper

NM_001040092.3

p.I12T

c.35T>C

1 paper

NM_001040092.3

p.A19T

c.55G>A

1 paper

NM_001040092.3

p.V20F

c.58G>T

1 paper

NM_001040092.3

p.V20I

c.58G>A