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.F548delFs

c.1643_1644delTT

Surrounding Variants

1 paper

NM_006208.3

p.Q545_A546Splc

c.1636-1G>C

2 papers

NM_006208.3

p.G550V

c.1649G>T

7 papers

NM_006208.3

p.Y551C

c.1652A>G

2 papers

NM_006208.3

p.G554R

c.1660G>A

2 papers

NM_006208.3

p.G554R

c.1660G>C

1 paper

NM_006208.3

p.G554*

c.1660G>T

1 paper

NM_006208.3

p.G554E

c.1661G>A

1 paper

NM_006208.3

p.H557insFs

c.1669_1670insT

1 paper

NM_006208.3

p.E560Q

c.1678G>C

1 paper

NM_006208.3

p.F564L

c.1690T>C

2 papers

NM_006208.3

p.N566S

c.1697A>G

4 papers

NM_006208.3

p.I567V

c.1699A>G