Varaico: Literature-Extracted Genetic Variants

ENPP5

43 papers

RefSeq Summary

This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been d...

Pfam Domains

Phosphodiestaa 30–342UCSCType I phosphodiesterase / nucleotide pyrophosphatase

Gene Aliases

HGNC Name

ectonucleotide pyrophosphatase/phosphodiesterase family member 5

HGNC Previous Name

ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001290072.2

p.S22A

c.64T>G

Surrounding Variants

2 papers

NM_001290072.2

p.L6I

c.16C>A

4 papers

NM_001290072.2

p.R39P

c.116G>C

1 paper

NM_001290072.2

p.D41Y

c.121G>T

1 paper

NM_001290072.2

p.L43ins1

c.127_128insCGC

1 paper

NM_001290072.2

p.P49L

c.146C>T

1 paper

NM_001290072.2

p.F51insFs

c.152dupT

1 paper

NM_001290072.2

p.Y53C

c.158A>G

1 paper

NM_001290072.2

p.G58V

c.173G>T

1 paper

NM_001290072.2

p.I69V

c.205A>G

1 paper

NM_001290072.2

p.V91A

c.272T>C

1 paper

NM_001290072.2

p.V91D

c.272T>A

1 paper

NM_001290072.2

p.R100W

c.298C>T