Varaico: Literature-Extracted Genetic Variants

Gene:BEAN1

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
1–12 of 37 variants
3 papers
NM_001178020.3
p.P6S
c.16C>T
3 papers
NM_001178020.3
p.I43K
c.128T>A
3 papers
NM_001178020.3
p.R76S
c.226C>A
2 papers
NM_001178020.3
p.R14C
c.40C>T
2 papers
NM_001178020.3
p.R76H
c.227G>A
1 paper
NM_001178020.3
p.C7R
c.19T>C
1 paper
NM_001178020.3
p.A10A
c.30A>G
1 paper
NM_001178020.3
p.A10A
c.30A>T
1 paper
NM_001178020.3
p.R14P
c.41G>C
1 paper
NM_001178020.3
p.S26L
c.77C>T
1 paper
NM_001178020.3
p.V33_P35Fs
c.98_104delinsTCCFs
1 paper
NM_001178020.3
p.V42I
c.124G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."