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.N577D

c.1729A>G

Surrounding Variants

1 paper

NM_001040092.3

p.N577S

c.1730A>G

1 paper

NM_001040092.3

p.R585W

c.1753C>T

1 paper

NM_001040092.3

p.L565L

c.1695G>A

1 paper

NM_001040092.3

p.D564G

c.1691A>G

1 paper

NM_001040092.3

p.N552H

c.1654A>C

1 paper

NM_001040092.3

p.D515Splc

c.1543+2T>G

1 paper

NM_001040092.3

p.I507N

c.1520T>A

2 papers

NM_001040092.3

p.S493P

c.1477T>C

1 paper

NM_001040092.3

p.V487L

c.1459G>C

1 paper

NM_001040092.3

p.F471del1

c.1411_1412delGAA

1 paper

NM_001040092.3

p.F470L

c.1410T>G

1 paper

NM_001040092.3

p.R450H

c.1349G>A