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.R498C

c.1492C>T

Surrounding Variants

1 paper

NM_006208.3

p.R498L

c.1493G>T

11 papers

NM_006208.3

p.H500P

c.1499A>C

1 paper

NM_006208.3

p.H500R

c.1499A>G

2 papers

NM_006208.3

p.L495insFs

c.1484_1485insG

1 paper

NM_006208.3

p.H493Y

c.1477C>T

1 paper

NM_006208.3

p.H493delFs

c.1478delA

9 papers

NM_006208.3

p.S504R

c.1510A>C

9 papers

NM_006208.3

p.S504R

c.1512T>A

9 papers

NM_006208.3

p.S504R

c.1512T>G

1 paper

NM_006208.3

p.Y490*

c.1470C>A

1 paper

NM_006208.3

p.Y490*

c.1470C>G

2 papers

NM_006208.3

p.R506G

c.1516A>G