Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.M522I

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.M522I
c.1566G>A
Surrounding Variants
1 paper
NM_139343.3
p.M522I
c.1566G>T
1 paper
NM_139343.3
p.M522I
c.1566G>C
1 paper
NM_139343.3
p.G511R
c.1531G>C
2 papers
NM_139343.3
p.G511R
c.1531G>A
1 paper
NM_004305.4
p.E368K
c.1102G>A
1 paper
NM_139343.3
p.V495L
c.1483G>T
1 paper
NM_139343.3
p.P491P
c.1473T>C
1 paper
NM_139343.3
p.L490F
c.1468C>T
1 paper
NM_139343.3
p.S489F
c.1466C>T
1 paper
NM_139343.3
p.S487_S488Splc
c.1462-3C>T
1 paper
NM_139343.3
p.Y531F
c.1592A>T
1 paper
NM_139343.3
p.Y531S
c.1592A>C
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