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

1 paper

NM_006208.3

p.C166Y

c.497G>A

Surrounding Variants

1 paper

NM_006208.3

p.S167delFs

c.500delC

1 paper

NM_006208.3

p.S167*

c.500C>A

1 paper

NM_006208.3

p.S167*

c.500C>G

1 paper

NM_006208.3

p.A165T

c.493G>A

1 paper

NM_006208.3

p.A165delFs

c.495delC

3 papers

NM_006208.3

p.D168H

c.502G>C

1 paper

NM_006208.3

p.C164C

c.492T>C

8 papers

NM_006208.3

p.C164S

c.491G>C

8 papers

NM_006208.3

p.C164S

c.490T>A

2 papers

NM_006208.3

p.C164R

c.490T>C

3 papers

NM_006208.3

p.S162G

c.484A>G

1 paper

NM_006208.3

p.K171*

c.511A>T