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

43 papers

NM_006208.3

p.K173Q

c.517A>C

Surrounding Variants

1 paper

NM_006208.3

p.K171R

c.512A>G

1 paper

NM_006208.3

p.K171M

c.512A>T

1 paper

NM_006208.3

p.K171*

c.511A>T

1 paper

NM_006208.3

p.D175N

c.523G>A

5 papers

NM_006208.3

p.C176R

c.526T>C

5 papers

NM_006208.3

p.C177S

c.529T>A

8 papers

NM_006208.3

p.C177Y

c.530G>A

5 papers

NM_006208.3

p.C177S

c.530G>C

1 paper

NM_006208.3

p.C177C

c.531C>T

3 papers

NM_006208.3

p.D168H

c.502G>C

1 paper

NM_006208.3

p.I178N

c.533T>A

1 paper

NM_006208.3

p.S167*

c.500C>A