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.H147R

c.440A>G

Surrounding Variants

1 paper

NM_001290072.2

p.P151S

c.451C>T

2 papers

NM_001290072.2

p.P156S

c.466C>T

1 paper

NM_001290072.2

p.R129W

c.385A>T

3 papers

NM_001290072.2

p.I171V

c.511A>G

1 paper

NM_001290072.2

p.E118*

c.352G>T

1 paper

NM_001290072.2

p.W187G

c.559T>G

1 paper

NM_001290072.2

p.L106L

c.318G>A

1 paper

NM_001290072.2

p.D189G

c.566A>G

1 paper

NM_001290072.2

p.R100W

c.298C>T

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.L203L

c.609C>T