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.S292fs

c.874_875fs

Surrounding Variants

6 papers

NM_006208.3

p.K293delFs

c.878_879delAA

2 papers

NM_006208.3

p.K293fs

c.877_878fs

2 papers

NM_006208.3

p.K293fs

c.877_878fs

3 papers

NM_006208.3

p.S292_E294delFs

c.876_880del5

1 paper

NM_006208.3

p.S289T

c.865T>A

6 papers

NM_006208.3

p.S287F

c.860C>T

3 papers

NM_006208.3

p.A286V

c.857C>T

1 paper

NM_006208.3

p.N297K

c.891T>A

1 paper

NM_006208.3

p.N297K

c.891T>G

1 paper

NM_006208.3

p.P298T

c.892C>A

1 paper

NM_006208.3

p.P298L

c.893C>T

2 papers

NM_006208.3

p.N285K

c.855T>A