Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.E220delFs

BECN1

236 papers

RefSeq Summary

This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex w...

Pfam Domains

BH3aa 105–129UCSCBeclin-1 BH3 domain, Bcl-2-interacting
APG6_Naa 135–261UCSCApg6 coiled-coil region
APG6aa 264–445UCSCApg6 BARA domain

Gene Aliases

HGNC Name

beclin 1

HGNC Alias Symbols

ATG6; VPS30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001313998.2
p.E220delFs
c.660delC
Surrounding Variants
1 paper
NM_001313998.2
p.R221K
c.662G>A
3 papers
NM_001313998.2
p.E220K
c.658G>A
1 paper
NM_001313998.2
p.R221delFs
c.662_663delTC
1 paper
NM_001313998.2
p.E218delFs
c.654delC
1 paper
NM_001313998.2
p.E218G
c.653A>G
1 paper
NM_001313998.2
p.V208_V215del0
c.624_644del21
1 paper
NM_001313998.2
p.A227A
c.681T>A
1 paper
NM_001313998.2
p.L212F
c.634C>T
1 paper
NM_001313998.2
p.E210delFs
c.629delT
1 paper
NM_001313998.2
p.N211D
c.631A>G
1 paper
NM_001313998.2
p.A209E
c.626C>A
1 paper
NM_001313998.2
p.V208A
c.623T>C
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."