Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.S159Y

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.S159Y
c.476C>A
Surrounding Variants
1 paper
NM_139343.3
p.E158D
c.474G>T
1 paper
NM_139343.3
p.E158D
c.474G>C
1 paper
NM_139343.3
p.Y157*
c.471C>G
1 paper
NM_139343.3
p.Y157*
c.471C>A
1 paper
NM_139343.3
p.Y157D
c.469T>G
5 papers
NM_139343.3
p.T162T
c.486T>C
1 paper
NM_139343.3
p.A163S
c.487G>T
1 paper
NM_139343.3
p.H155R
c.464A>G
1 paper
NM_139343.3
p.K164E
c.490A>G
13 papers
NM_139343.3
p.R154Q
c.461G>A
2 papers
NM_139343.3
p.R154W
c.460C>T
1 paper
NM_139343.3
p.K165E
c.493A>G
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