Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.P304fs

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
1 paper
NM_139343.3
p.P304fs
c.910_911fs
Surrounding Variants
1 paper
NM_139343.3
p.S296_G302del7
c.886_905del21
1 paper
NM_139343.3
p.A306V
c.917C>T
1 paper
NM_139343.3
p.P304_A306delFs
c.910_916del7
1 paper
NM_139343.3
p.E309K
c.925G>A
1 paper
NM_139343.3
p.S298S
c.894G>A
1 paper
NM_139343.3
p.S298L
c.893C>T
1 paper
NM_139343.3
p.T307_R311del5
c.919_932del15
1 paper
NM_139343.3
p.G293R
c.877G>A
7 papers
NM_139343.3
p.P318L
c.953C>T
1 paper
NM_139343.3
p.A289T
c.865G>A
1 paper
NM_139343.3
p.N288N
c.864C>T
3 papers
NM_139343.3
p.A319A
c.957C>T
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