Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.P318L

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
7 papers
NM_139343.3
p.P318L
c.953C>T
Surrounding Variants
3 papers
NM_139343.3
p.A319A
c.957C>T
1 paper
NM_139343.3
p.G321R
c.961G>C
1 paper
NM_139343.3
p.G321R
c.961G>A
1 paper
NM_139343.3
p.T307_R311del5
c.919_932del15
1 paper
NM_139343.3
p.G325R
c.973G>C
1 paper
NM_139343.3
p.E309K
c.925G>A
1 paper
NM_139343.3
p.P304_A306delFs
c.910_916del7
1 paper
NM_139343.3
p.A306V
c.917C>T
1 paper
NM_139350.3
p.P301L
c.902C>T
1 paper
NM_139343.3
p.P304fs
c.910_911fs
1 paper
NM_139343.3
p.S296_G302del7
c.886_905del21
1 paper
NM_139343.3
p.Q334R
c.1001A>G
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