Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP3
Variant:p.T300I

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
3 papers
NM_006589.3
p.T300I
c.899C>T
Surrounding Variants
1 paper
NM_006589.3
p.L337L
c.1011C>A
1 paper
NM_006589.3
p.T281ins1
c.842_843insTGA
2 papers
NM_006589.3
p.L278F
c.834G>T
2 papers
NM_006589.3
p.L278F
c.834G>C
1 paper
NM_006589.3
p.L349delFs
c.1045delG
1 paper
NM_006589.3
p.R357C
c.1069C>T
1 paper
NM_006589.3
p.R383Q
c.1148G>A
1 paper
NM_006589.3
p.P396S
c.1186C>T
1 paper
NM_006589.3
p.P396fs
c.1186_1187fs
1 paper
NM_006589.3
p.C257Y
c.770G>A
1 paper
NM_006589.3
p.P410S
c.1228C>T
1 paper
NM_006589.3
p.P412fs
c.1234_1235fs
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