Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP2
Variant:p.S100S

ENTREP2

43 papers

Pfam Domains

CD20aa 34–199UCSCCD20-like family
ENTREP_Caa 483–536UCSCEndosomal transmembrane epsin interactor C-terminal domain

Gene Aliases

HGNC Name

endosomal transmembrane epsin interactor 2

HGNC Previous Symbol

FAM189A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015307.2
p.S100S
c.300T>A
Surrounding Variants
1 paper
NM_015307.2
p.M97V
c.289A>G
1 paper
NM_015307.2
p.Q116*
c.346C>T
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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."