Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.P431A

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.P431A
c.1291C>G
Surrounding Variants
1 paper
NM_139343.3
p.P431S
c.1291C>T
6 papers
NM_139343.3
p.P431L
c.1292C>T
1 paper
NM_139343.3
p.E424G
c.1271A>G
1 paper
NM_139343.3
p.P422fs
c.1264_1265fs
1 paper
NM_139343.3
p.S445F
c.1334C>T
1 paper
NM_139343.3
p.T450M
c.1349C>T
1 paper
NM_139343.3
p.G454E
c.1361G>A
1 paper
NM_139343.3
p.E421_P422Splc
c.1264-47C>A
1 paper
NM_139343.3
p.E421_P422Splc
c.1263+211A>T
1 paper
NM_139350.3
p.Q303_P304Splc
c.910-1G>A
1 paper
NM_139343.3
p.I415_P416delFs
c.1243_1246del4
1 paper
NM_139343.3
p.E463*
c.1387G>T
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