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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENTREP2

Variant:p.F51F

ENTREP2

15q13.1 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr15:29570571 G>A

NM_015307.2

p.F51F

c.153C>T

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

Surrounding Variants

chr15:29570641 C>T

NM_015307.2

p.R28H

c.83G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

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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."