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

19 papers

NM_006208.3

p.Y471C

c.1412A>G

Surrounding Variants

1 paper

NM_006208.3

p.E472K

c.1414G>A

1 paper

NM_006208.3

p.G473insFs

c.1417dupG

1 paper

NM_006208.3

p.G473D

c.1418G>A

1 paper

NM_006208.3

p.F469S

c.1406T>C

1 paper

NM_006208.3

p.G473G

c.1419C>T

8 papers

NM_006208.3

p.R476*

c.1426C>T

2 papers

NM_006208.3

p.R476Q

c.1427G>A

1 paper

NM_006208.3

p.L478F

c.1432C>T

1 paper

NM_006208.3

p.S479F

c.1436C>T

1 paper

NM_006208.3

p.S479_C480Splc

c.1437+1G>A

3 papers

NM_006208.3

p.S479_C480Splc

c.1437+1G>T

1 paper

NM_006208.3

p.S479_C480Splc

c.1438-2A>C