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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BIN3

Variant:p.M1R

BIN3

8p21.3 (UCSC)OMIM GTEx

31 papers

RefSeq Summary

The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate...

Pfam Domains

BARaa 8–177UCSCBAR domain

BARaa 10–225UCSCBAR domain

Gene Aliases

HGNC Name

bridging integrator 3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:22669050 A>C

NM_018688.6

p.M1R

c.2T>G

Exome: 0.0% (AC=180, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

Surrounding Variants

chr8:22669046 G>A

NM_018688.6

p.S2S

c.6C>T

Exome: 23.9% (AC=343287, hom=43988)Genome: 18.1% (AC=27573, hom=3198)14 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."