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

1 paper

NM_001040092.3

p.F211Y

c.632T>A

Surrounding Variants

1 paper

NM_001040092.3

p.F211L

c.633T>G

1 paper

NM_001040092.3

p.P212H

c.635C>A

3 papers

NM_001040092.3

p.T210A

c.628A>G

1 paper

NM_001040092.3

p.N213S

c.638A>G

1 paper

NM_001040092.3

p.L214delFs

c.640delA

1 paper

NM_001040092.3

p.T216ins1

c.647_648insTCA

1 paper

NM_001040092.3

p.A218V

c.653C>T

1 paper

NM_001040092.3

p.C195Y

c.584G>A

1 paper

NM_001040092.3

p.I189_E190ins4

c.565_569ins12

1 paper

NM_001040092.3

p.V185L

c.553G>C

1 paper

NM_001040092.3

p.D172H

c.514G>C

1 paper

NM_001040092.3

p.P165Q

c.494C>A