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.K105_D106delFs

c.313_317del5

Surrounding Variants

1 paper

NM_001040092.3

p.C108F

c.323G>T

1 paper

NM_001040092.3

p.E110V

c.329A>T

1 paper

NM_001040092.3

p.E110A

c.329A>C

1 paper

NM_001040092.3

p.E102K

c.304G>A

1 paper

NM_001040092.3

p.N113I

c.338A>T

1 paper

NM_001040092.3

p.R99C

c.295C>T

1 paper

NM_001040092.3

p.E122A

c.365A>C

1 paper

NM_001040092.3

p.D129N

c.385G>A

1 paper

NM_001040092.3

p.D129A

c.386A>C

1 paper

NM_001040092.3

p.S142L

c.425C>T

1 paper

NM_001040092.3

p.K153K

c.459G>A

1 paper

NM_001040092.3

p.A154A

c.462C>T