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

10 papers

NM_006208.3

p.Y901S

c.2702A>C

Surrounding Variants

1 paper

NM_006208.3

p.Y901C

c.2702A>G

1 paper

NM_006208.3

p.Y901H

c.2701T>C

2 papers

NM_006208.3

p.F900S

c.2699T>C

7 papers

NM_006208.3

p.K905_E906delFs

c.2713_2717del5

2 papers

NM_006208.3

p.S899G

c.2695A>G

1 paper

NM_006208.3

p.K905fs

c.2713_2714fs

6 papers

NM_006208.3

p.K905fs

c.2713_2714fs

1 paper

NM_006208.3

p.K905R

c.2714A>G

1 paper

NM_006208.3

p.G897E

c.2690G>A

1 paper

NM_006208.3

p.E906G

c.2717A>G

1 paper

NM_006208.3

p.P907L

c.2720C>T

1 paper

NM_006208.3

p.V908I

c.2722G>A