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.M284T

c.851T>C

Surrounding Variants

2 papers

NM_006208.3

p.N285K

c.855T>A

2 papers

NM_006208.3

p.N285K

c.855T>G

3 papers

NM_006208.3

p.A286V

c.857C>T

6 papers

NM_006208.3

p.S287F

c.860C>T

1 paper

NM_006208.3

p.M279I

c.837G>A

1 paper

NM_006208.3

p.M279I

c.837G>C

1 paper

NM_006208.3

p.M279I

c.837G>T

1 paper

NM_006208.3

p.S289T

c.865T>A

2 papers

NM_006208.3

p.M279V

c.835A>G

1 paper

NM_006208.3

p.K278E

c.832A>G

3 papers

NM_006208.3

p.S292_E294delFs

c.876_880del5

2 papers

NM_006208.3

p.N277H

c.829A>C