Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP3
Variant:p.R628H

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
2 papers
NM_006589.3
p.R628H
c.1883G>A
Surrounding Variants
1 paper
NM_006589.3
p.S634R
c.1900A>C
1 paper
NM_006589.3
p.L642V
c.1924C>G
1 paper
NM_006589.3
p.R614Q
c.1841G>A
1 paper
NM_006589.3
p.T652P
c.1954A>C
1 paper
NM_006589.3
p.E665K
c.1993G>A
2 papers
NM_006589.3
p.R596K
c.1787G>A
1 paper
NM_006589.3
p.G568D
c.1703G>A
1 paper
NM_006589.3
p.K562E
c.1684A>G
1 paper
NM_006589.3
p.V557A
c.1670T>C
1 paper
NM_006589.3
p.E552K
c.1654G>A
2 papers
NM_006589.3
p.R539L
c.1616G>T
1 paper
NM_006589.3
p.R539H
c.1616G>A
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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."