Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP3
Variant:p.G427delFs

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.G427delFs
c.1279delC
Surrounding Variants
1 paper
NM_006589.3
p.W428C
c.1284G>T
1 paper
NM_006589.3
p.W428C
c.1284G>C
1 paper
NM_006589.3
p.A419P
c.1255G>C
2 papers
NM_006589.3
p.R440K
c.1319G>A
1 paper
NM_006589.3
p.P412fs
c.1234_1235fs
1 paper
NM_006589.3
p.R445delFs
c.1333delG
1 paper
NM_006589.3
p.P410S
c.1228C>T
1 paper
NM_006589.3
p.G446A
c.1337G>C
1 paper
NM_006589.3
p.G448R
c.1342G>C
1 paper
NM_006589.3
p.R457Q
c.1370G>A
1 paper
NM_006589.3
p.P459S
c.1375C>T
1 paper
NM_006589.3
p.P396S
c.1186C>T
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