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

15 papers

NM_006208.3

p.N792S

c.2375A>G

Surrounding Variants

1 paper

NM_006208.3

p.N792D

c.2374A>G

6 papers

NM_006208.3

p.N792K

c.2376T>A

6 papers

NM_006208.3

p.N792K

c.2376T>G

1 paper

NM_006208.3

p.V793I

c.2377G>A

1 paper

NM_006208.3

p.V791I

c.2371G>A

1 paper

NM_006208.3

p.V794I

c.2380G>A

1 paper

NM_006208.3

p.G790D

c.2369G>A

1 paper

NM_006208.3

p.R788_N789delFs

c.2363_2366del4

1 paper

NM_006208.3

p.R782Q

c.2345G>A

7 papers

NM_006208.3

p.R782*

c.2344C>T

10 papers

NM_006208.3

p.D804H

c.2410G>C

1 paper

NM_006208.3

p.D804E

c.2412T>A