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.C154R

c.460T>C

Surrounding Variants

1 paper

NM_006208.3

p.G155R

c.463G>C

1 paper

NM_006208.3

p.K151E

c.451A>G

1 paper

NM_006208.3

p.N150_K151insFs

c.450_451insC

1 paper

NM_006208.3

p.N150S

c.449A>G

1 paper

NM_006208.3

p.N150H

c.448A>C

2 papers

NM_006208.3

p.C149W

c.447C>G

6 papers

NM_006208.3

p.C149S

c.446G>C

6 papers

NM_006208.3

p.C149S

c.445T>A

1 paper

NM_006208.3

p.T160S

c.478A>T

1 paper

NM_006208.3

p.T160S

c.479C>G

1 paper

NM_006208.3

p.W147delFs

c.439delT

3 papers

NM_006208.3

p.S162G

c.484A>G