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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BIN3

Variant:p.K18I

BIN3

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

1 paper

chr8:22644759 T>A

NM_018688.6

p.K18I

c.53A>T

BAR

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

1 paper

chr8:22644763 G>C

NM_018688.6

p.P17A

c.49C>G

BAR

exact variant not in gnomAD13 overlapping SVs

1 paper

chr8:22644754 CTGTT>C

NM_018688.6

p.K18_T19delFs

c.53_56del4

BAR

exact variant not in gnomAD13 overlapping SVs

1 paper

chr8:22644790 T>C

NM_018688.6

p.I8V

c.22A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr8:22636928 A>G

NM_018688.6

p.L31P

c.92T>C

BAR

Exome: 0.0% (AC=408, hom=0)Genome: 0.0% (AC=59, hom=0)13 overlapping SVs

1 paper

chr8:22636569 C>T

NM_018688.6

p.R39Q

c.116G>A

BAR

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=5, hom=0)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."