Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.K542R

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
5 papers
NM_139343.3
p.K542R
c.1625A>G
NM_139351.3
p.K358R
c.1073A>G
Surrounding Variants
1 paper
NM_139343.3
p.K542T
c.1625A>C
1 paper
NM_139343.3
p.L541V
c.1621C>G
1 paper
NM_139343.3
p.Q540H
c.1620G>T
1 paper
NM_139343.3
p.Q540H
c.1620G>C
1 paper
NM_139343.3
p.D537V
c.1610A>T
1 paper
NM_139343.3
p.D537A
c.1610A>C
1 paper
NM_139343.3
p.P551S
c.1651C>T
1 paper
NM_139343.3
p.P551L
c.1652C>T
2 papers
NM_139343.3
p.T532M
c.1595C>T
1 paper
NM_139343.3
p.Y531F
c.1592A>T
1 paper
NM_139343.3
p.Y531S
c.1592A>C
2 papers
NM_139343.3
p.E556K
c.1666G>A
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