Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.K575*

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
11 papers
NM_139343.3
p.K575*
c.1723A>T
NM_004305.4
p.K436*
c.1306A>T
NM_139350.3
p.K421*
c.1261A>T
Surrounding Variants
10 papers
NM_139343.3
p.Q573*
c.1717C>T
NM_004305.4
p.Q434*
c.1300C>T
NM_139350.3
p.Q419*
c.1255C>T
1 paper
NM_139343.3
p.R581C
c.1741C>T
1 paper
NM_139343.3
p.R581R
c.1743T>C
2 papers
NM_139343.3
p.V583I
c.1747G>A
2 papers
NM_139343.3
p.V566M
c.1696G>A
1 paper
NM_139343.3
p.F584S
c.1751T>C
1 paper
NM_139350.3
p.P431A
c.1291C>G
1 paper
NM_139343.3
p.P585P
c.1755C>T
5 papers
NM_139343.3
p.E560K
c.1678G>A
1 paper
NM_139343.3
p.D559insFs
c.1675dupG
1 paper
NM_139343.3
p.P593delFs
c.1778delG
1 paper
NM_139343.3
p.P593delFs
c.1779delT
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