Varaico: Literature-Extracted Genetic Variants

Gene:BIN3

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
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
2 papers
NM_018688.6
p.S2S
c.6C>T
2 papers
NM_018688.6
p.S189R
c.565A>C
2 papers
NM_018688.6
p.S189R
c.567C>G
2 papers
NM_018688.6
p.S189R
c.567C>A
1 paper
NM_018688.6
p.M1R
c.2T>G
1 paper
NM_018688.6
p.I8V
c.22A>G
1 paper
NM_018688.6
p.P17A
c.49C>G
1 paper
NM_018688.6
p.K18I
c.53A>T
1 paper
NM_018688.6
p.K18_T19delFs
c.53_56del4
1 paper
NM_018688.6
p.L31P
c.92T>C
1 paper
NM_018688.6
p.R39Q
c.116G>A
1 paper
NM_018688.6
p.L66S
c.197T>C
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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."