Varaico: Literature-Extracted Genetic Variants

Gene:BIN1

BIN1

249 papers

RefSeq Summary

This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are exp...

Pfam Domains

BARaa 18–268UCSCBAR domain
SH3_9aa 527–590UCSCVariant SH3 domain

Gene Aliases

HGNC Name

bridging integrator 1

HGNC Previous Symbol

AMPHL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 207 variants
17 papers
NM_139343.3
p.K35N
c.105G>T
16 papers
NM_139343.3
p.K35N
c.105G>C
16 papers
NM_139343.3
p.D151N
c.451G>A
13 papers
NM_139343.3
p.R154Q
c.461G>A
9 papers
NM_139343.3
p.K575*
c.1723A>T
8 papers
NM_139343.3
p.Q573*
c.1717C>T
7 papers
NM_139343.3
p.R145C
c.433C>T
7 papers
NM_139343.3
p.P318L
c.953C>T
6 papers
NM_139343.3
p.R24C
c.70C>T
6 papers
NM_139343.3
p.P431L
c.1292C>T
5 papers
NM_139343.3
p.T162T
c.486T>C
5 papers
NM_139343.3
p.E560K
c.1678G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."