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

4 papers

NM_006208.3

p.Y301C

c.902A>G

Surrounding Variants

1 paper

NM_006208.3

p.K302E

c.904A>G

2 papers

NM_006208.3

p.W300*

c.900G>A

2 papers

NM_006208.3

p.W300*

c.899G>A

2 papers

NM_006208.3

p.W300R

c.898T>A

2 papers

NM_006208.3

p.W300R

c.898T>C

1 paper

NM_006208.3

p.G303R

c.907G>A

1 paper

NM_006208.3

p.E299D

c.897G>C

1 paper

NM_006208.3

p.E299D

c.897G>T

1 paper

NM_006208.3

p.P298L

c.893C>T

1 paper

NM_006208.3

p.P298T

c.892C>A

20 papers

NM_006208.3

p.P305T

c.913C>A

1 paper

NM_006208.3

p.N297K

c.891T>A