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.W877R

c.2629T>A

Surrounding Variants

1 paper

NM_006208.3

p.W877R

c.2629T>C

2 papers

NM_006208.3

p.S876L

c.2627C>T

3 papers

NM_006208.3

p.V878_E879del2

c.2632_2636del6

2 papers

NM_006208.3

p.S876_E880del5

c.2626_2639del15

4 papers

NM_006208.3

p.V878A

c.2633T>C

4 papers

NM_006208.3

p.S875F

c.2624C>T

2 papers

NM_006208.3

p.D874V

c.2621A>T

1 paper

NM_006208.3

p.E880G

c.2639A>G

1 paper

NM_006208.3

p.K872E

c.2614A>G

1 paper

NM_006208.3

p.G871E

c.2612G>A

2 papers

NM_006208.3

p.G871R

c.2611G>A

2 papers

NM_006208.3

p.G871R

c.2611G>C