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

16 papers

NM_006208.3

p.P250L

c.749C>T

Surrounding Variants

2 papers

NM_006208.3

p.R249I

c.746G>T

4 papers

NM_006208.3

p.V251_Y252del1

c.753_755delATA

6 papers

NM_006208.3

p.Y252del1

c.754_755delTAT

6 papers

NM_006208.3

p.Y252C

c.755A>G

1 paper

NM_006208.3

p.K246E

c.736A>G

1 paper

NM_006208.3

p.N247delFs

c.740delA

1 paper

NM_006208.3

p.T245S

c.734C>G

1 paper

NM_006208.3

p.T245S

c.733A>T

2 papers

NM_006208.3

p.T256A

c.766A>G

2 papers

NM_006208.3

p.T256S

c.766A>T

2 papers

NM_006208.3

p.T256S

c.767C>G

1 paper

NM_006208.3

p.T256I

c.767C>T