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

1–12 of 788 variants

43 papers

NM_006208.3

p.K173Q

c.517A>C

25 papers

NM_006208.3

p.Y261*

c.783C>G

21 papers

NM_006208.3

p.Y261*

c.783C>A

20 papers

NM_006208.3

p.P305T

c.913C>A

19 papers

NM_006208.3

p.Y471C

c.1412A>G

19 papers

NM_006208.3

p.R774C

c.2320C>T

17 papers

NM_006208.3

p.R481W

c.1441C>T

16 papers

NM_006208.3

p.P250L

c.749C>T

15 papers

NM_006208.3

p.N792S

c.2375A>G

14 papers

NM_006208.3

p.E893*

c.2677G>T

13 papers

NM_006208.3

p.Y371F

c.1112A>T

13 papers

NM_006208.3

p.Y570C

c.1709A>G