Varaico: Literature-Extracted Genetic Variants

Gene:BEAN1
Variant:p.R76S

BEAN1

55 papers

RefSeq Summary

The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW dom...

Pfam Domains

BEAN1_helicalaa 33–75UCSCBEAN1 helical domain
BEAN1_helicalaa 33–75UCSCBEAN1 helical domain

Gene Aliases

HGNC Name

brain expressed associated with NEDD4 1

HGNC Previous Symbol

SCA31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001178020.3
p.R76S
c.226C>A
Surrounding Variants
1 paper
NM_001178020.3
p.R76C
c.226C>T
2 papers
NM_001178020.3
p.R76H
c.227G>A
1 paper
NM_001178020.3
p.R76_H79del0
c.227_235del9
1 paper
NM_001178020.3
p.H82insFs
c.244_245ins10
1 paper
NM_001178020.3
p.H82fs
c.244_245fs
1 paper
NM_001178020.3
p.R87C
c.259C>T
1 paper
NM_001178020.3
p.R90*
c.268C>T
1 paper
NM_001178020.3
p.T53I
c.158C>T
3 papers
NM_001178020.3
p.I43K
c.128T>A
1 paper
NM_001178020.3
p.V42_I43delFs
c.126_129del4
1 paper
NM_001178020.3
p.V42I
c.124G>A
1 paper
NM_001178020.3
p.V33_P35Fs
c.98_104delinsTCCFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."