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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPC2

Variant:p.P105Splc

EPC2

2q23.1 (UCSC)OMIM GTEx

54 papers

Pfam Domains

EPL1aa 7–149UCSCEnhancer of polycomb-like

E_Pc_Caa 577–807UCSCEnhancer of Polycomb C-terminus

Gene Aliases

HGNC Name

enhancer of polycomb 2

HGNC Alias Symbol

DKFZP566F2124

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:148731697 C>A

NM_015630.4

p.P105Splc

c.314-11925C>A

exact variant not in gnomAD123 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."