Varaico: Literature-Extracted Genetic Variants

ENPP1

429 papers

RefSeq Summary

This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subu...

Pfam Domains

Somatomedin_Baa 106–143UCSCSomatomedin B domain

Somatomedin_Baa 147–187UCSCSomatomedin B domain

Phosphodiestaa 212–538UCSCType I phosphodiesterase / nucleotide pyrophosphatase

Endonuclease_NSaa 663–905UCSCDNA/RNA non-specific endonuclease

Gene Aliases

HGNC Name

ectonucleotide pyrophosphatase/phosphodiesterase 1

HGNC Previous Symbols

NPPS; M6S1; PDNP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_006208.3

p.Y268H

c.802T>C

Surrounding Variants

4 papers

NM_006208.3

p.Y268C

c.803A>G

1 paper

NM_006208.3

p.L267L

c.801G>A

9 papers

NM_006208.3

p.G266V

c.797G>T

2 papers

NM_006208.3

p.G266R

c.796G>A

2 papers

NM_006208.3

p.G266R

c.796G>C

2 papers

NM_006208.3

p.T265_G266Splc

c.796-1G>T

1 paper

NM_006208.3

p.T265_G266Splc

c.796-2A>G

2 papers

NM_006208.3

p.H272Y

c.814C>T

2 papers

NM_006208.3

p.H272R

c.815A>G

1 paper

NM_006208.3

p.G273G

c.819C>T

1 paper

NM_006208.3

p.I275V

c.823A>G

8 papers

NM_006208.3

p.D276N

c.826G>A