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.T916R

c.2747C>G

Surrounding Variants

1 paper

NM_006208.3

p.T916fs

c.2746_2747fs

1 paper

NM_006208.3

p.T916delFs

c.2746delA

2 papers

NM_006208.3

p.L914*

c.2741T>A

1 paper

NM_006208.3

p.L914W

c.2741T>G

5 papers

NM_006208.3

p.L912S

c.2735T>C

1 paper

NM_006208.3

p.V908I

c.2722G>A

2 papers

NM_006208.3

p.D925H

c.2773G>C

1 paper

NM_006208.3

p.P907L

c.2720C>T

1 paper

NM_006208.3

p.*926R

c.2776T>A

1 paper

NM_006208.3

p.*926R

c.2776T>C

1 paper

NM_006208.3

p.E906G

c.2717A>G

1 paper

NM_006208.3

p.*926W

c.2778A>G