Varaico: Literature-Extracted Genetic Variants

Gene:ENPP7
Variant:p.E89*

ENPP7

39 papers

RefSeq Summary

The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membr...

Pfam Domains

Phosphodiestaa 33–356UCSCType I phosphodiesterase / nucleotide pyrophosphatase

Gene Aliases

HGNC Name

ectonucleotide pyrophosphatase/phosphodiesterase 7

HGNC Alias Symbols

alk-SMase; NPP7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178543.5
p.E89*
c.265G>T
Surrounding Variants
1 paper
NM_178543.5
p.H91Q
c.273C>A
1 paper
NM_178543.5
p.H91Q
c.273C>G
1 paper
NM_178543.5
p.S103N
c.308G>A
1 paper
NM_178543.5
p.H110H
c.330C>T
1 paper
NM_178543.5
p.W119C
c.357G>C
1 paper
NM_178543.5
p.W119C
c.357G>T
1 paper
NM_178543.5
p.V124L
c.370G>C
1 paper
NM_178543.5
p.F141S
c.422T>C
1 paper
NM_178543.5
p.F141F
c.423C>T
1 paper
NM_178543.5
p.T155T
c.465G>A
1 paper
NM_178543.5
p.N165S
c.494A>G
1 paper
NM_178543.5
p.E169Q
c.505G>C
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