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.Y261_I263del3

c.781_788del9

Surrounding Variants

1 paper

NM_006208.3

p.H260Q

c.780C>G

1 paper

NM_006208.3

p.H260H

c.780C>T

21 papers

NM_006208.3

p.Y261*

c.783C>A

25 papers

NM_006208.3

p.Y261*

c.783C>G

3 papers

NM_006208.3

p.S262G

c.784A>G

2 papers

NM_006208.3

p.N259S

c.776A>G

1 paper

NM_006208.3

p.I263F

c.787A>T

2 papers

NM_006208.3

p.T256S

c.767C>G

1 paper

NM_006208.3

p.T256I

c.767C>T

2 papers

NM_006208.3

p.T256A

c.766A>G

2 papers

NM_006208.3

p.T256S

c.766A>T

5 papers

NM_006208.3

p.T265_G266Splc

c.795+1G>A