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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCAS3

Variant:p.N87S

BCAS3

17q23.2 (UCSC)OMIM PanelApp GTEx

76 papers

Pfam Domains

BCAS3_WD40aa 11–464UCSCBCAS3, WD40 repeat

BCAS3aa 701–792UCSCBCAS3 microtubule associated cell migration factor, C-terminal

Gene Aliases

HGNC Name

BCAS3 microtubule associated cell migration factor

HGNC Alias Symbols

FLJ20128; PHAF2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr17:60709264 A>G

NM_017679.5

p.N87S

c.260A>G

Exome: 97.1% (AC=1407405, hom=690991)Genome: 80.7% (AC=122833, hom=55519)16 overlapping SVs

Surrounding Variants

chr17:60709320 A>G

NM_017679.5

p.I106V

c.316A>G

Exome: 0.8% (AC=10758, hom=1062)Genome: 7.0% (AC=10645, hom=1241)16 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."