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.L810S

c.2429T>C

Surrounding Variants

2 papers

NM_006208.3

p.S809F

c.2426C>T

1 paper

NM_006208.3

p.L813Q

c.2438T>A

3 papers

NM_006208.3

p.R806H

c.2417G>A

1 paper

NM_006208.3

p.R806C

c.2416C>T

7 papers

NM_006208.3

p.G805V

c.2414G>T

1 paper

NM_006208.3

p.D804E

c.2412T>A

1 paper

NM_006208.3

p.D804E

c.2412T>G

10 papers

NM_006208.3

p.D804H

c.2410G>C

1 paper

NM_006208.3

p.V794I

c.2380G>A

1 paper

NM_006208.3

p.V793I

c.2377G>A

6 papers

NM_006208.3

p.N792K

c.2376T>A

6 papers

NM_006208.3

p.N792K

c.2376T>G