Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP3
Variant:p.P29insFs

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.P29insFs
c.85_86insG
Surrounding Variants
1 paper
NM_006589.3
p.R25fs
c.73_74fs
1 paper
NM_006589.3
p.A33T
c.97G>A
2 papers
NM_006589.3
p.G45_I46insFs
c.135_136insAA
1 paper
NM_006589.3
p.M1I
c.3G>T
1 paper
NM_006589.3
p.E62V
c.185A>T
1 paper
NM_006589.3
p.S75_L76Splc
c.226-3C>T
1 paper
NM_006589.3
p.F98L
c.292T>C
1 paper
NM_006589.3
p.M107K
c.320T>A
1 paper
NM_006589.3
p.A111V
c.332C>T
1 paper
NM_006589.3
p.V114V
c.342T>C
1 paper
NM_006589.3
p.K118N
c.354G>C
1 paper
NM_006589.3
p.L122R
c.365T>G
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