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.N566S

c.1697A>G

Surrounding Variants

4 papers

NM_006208.3

p.I567V

c.1699A>G

2 papers

NM_006208.3

p.E568*

c.1702G>T

1 paper

NM_006208.3

p.F564L

c.1690T>C

13 papers

NM_006208.3

p.Y570C

c.1709A>G

1 paper

NM_006208.3

p.N571H

c.1711A>C

4 papers

NM_006208.3

p.L572S

c.1715T>C

1 paper

NM_006208.3

p.E560Q

c.1678G>C

2 papers

NM_006208.3

p.D575Splc

c.1723+1G>A

1 paper

NM_006208.3

p.H557insFs

c.1669_1670insT

2 papers

NM_006208.3

p.D575E

c.1725T>A

2 papers

NM_006208.3

p.D575E

c.1725T>G

1 paper

NM_006208.3

p.G554E

c.1661G>A