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

8 papers

NM_006208.3

p.R481Q

c.1442G>A

Surrounding Variants

17 papers

NM_006208.3

p.R481W

c.1441C>T

2 papers

NM_006208.3

p.E482Q

c.1444G>C

1 paper

NM_006208.3

p.C480Y

c.1439G>A

6 papers

NM_006208.3

p.C480R

c.1438T>C

1 paper

NM_006208.3

p.P483S

c.1447C>T

1 paper

NM_006208.3

p.S479_C480Splc

c.1438-2A>C

1 paper

NM_006208.3

p.Q485R

c.1454A>G

1 paper

NM_006208.3

p.P489S

c.1465C>T

1 paper

NM_006208.3

p.Y490*

c.1470C>A

1 paper

NM_006208.3

p.Y490*

c.1470C>G

1 paper

NM_006208.3

p.H493Y

c.1477C>T

1 paper

NM_006208.3

p.H493delFs

c.1478delA