Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.K35N

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
Selected Variant
17 papers
NM_139343.3
p.K35N
c.105G>T
Surrounding Variants
16 papers
NM_139343.3
p.K35N
c.105G>C
2 papers
NM_139343.3
p.A36E
c.107C>A
1 paper
NM_139343.3
p.T39A
c.115A>G
1 paper
NM_139343.3
p.Q31Q
c.93G>A
1 paper
NM_139343.3
p.K40T
c.119A>C
1 paper
NM_139343.3
p.E42K
c.124G>A
1 paper
NM_139343.3
p.E45Q
c.133G>C
1 paper
NM_139343.3
p.K53N
c.159G>T
1 paper
NM_139343.3
p.K53N
c.159G>C
1 paper
NM_139343.3
p.L55_T56Splc
c.165+1G>A
1 paper
NM_139343.3
p.R66W
c.196C>T
1 paper
NM_139343.3
p.R66Q
c.197G>A
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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."