Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.R24C

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
6 papers
NM_139343.3
p.R24C
c.70C>T
Surrounding Variants
1 paper
NM_139343.3
p.L22H
c.65T>A
1 paper
NM_139343.3
p.K21del1
c.61_62delCTT
1 paper
NM_139343.3
p.K28del1
c.82_84delCTT
1 paper
NM_139343.3
p.Q19*
c.55C>T
1 paper
NM_139343.3
p.K28_V29insFs
c.84_85insG
3 papers
NM_139343.3
p.V18E
c.53T>A
1 paper
NM_139343.3
p.G12V
c.35G>T
1 paper
NM_139343.3
p.K28_V29Splc
c.84+26C>T
1 paper
NM_139343.3
p.T10delFs
c.28delT
1 paper
NM_139343.3
p.E3E
c.9G>A
1 paper
NM_139343.3
p.E3V
c.8A>T
2 papers
NM_139343.3
p.M1_A2insFs
c.3_4insG
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