Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP3
Variant:p.E150D

ENTREP3

59 papers

RefSeq Summary

This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential b...

Pfam Domains

CD20aa 36–196UCSCCD20-like family
CD20aa 36–196UCSCCD20-like family

Gene Aliases

HGNC Name

endosomal transmembrane epsin interactor 3

HGNC Previous Symbol

FAM189B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006589.3
p.E150D
c.450G>C
Surrounding Variants
1 paper
NM_006589.3
p.E150D
c.450G>T
1 paper
NM_006589.3
p.S151*
c.452C>A
1 paper
NM_006589.3
p.P149L
c.446C>T
1 paper
NM_006589.3
p.P149S
c.445C>T
1 paper
NM_006589.3
p.L145F
c.433C>T
1 paper
NM_006589.3
p.V142L
c.424G>C
1 paper
NM_006589.3
p.R167*
c.499C>T
1 paper
NM_006589.3
p.S130F
c.389C>T
2 papers
NM_006589.3
p.F126Y
c.377T>A
1 paper
NM_006589.3
p.A123P
c.367G>C
1 paper
NM_006589.3
p.L122R
c.365T>G
1 paper
NM_006589.3
p.K118N
c.354G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."