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

2 papers

NM_006208.3

p.R888delFs

c.2662delC

Surrounding Variants

1 paper

NM_006208.3

p.A887A

c.2661A>G

1 paper

NM_006208.3

p.R888G

c.2662C>G

11 papers

NM_006208.3

p.R888W

c.2662C>T

1 paper

NM_006208.3

p.R888delFs

c.2664delG

6 papers

NM_006208.3

p.R888Q

c.2663G>A

1 paper

NM_006208.3

p.I889fs

c.2665_2666fs

6 papers

NM_006208.3

p.R886T

c.2657G>C

1 paper

NM_006208.3

p.A887_D891delFs

c.2659_2672del14

1 paper

NM_006208.3

p.M883I

c.2649G>A

1 paper

NM_006208.3

p.M883I

c.2649G>C

1 paper

NM_006208.3

p.M883I

c.2649G>T

14 papers

NM_006208.3

p.E893*

c.2677G>T