Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.V311insFs

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.V311insFs
c.932_933insG
Surrounding Variants
1 paper
NM_001313998.2
p.V311delFs
c.933delC
1 paper
NM_001313998.2
p.W307delFs
c.921delC
1 paper
NM_001313998.2
p.L314H
c.941T>A
1 paper
NM_001313998.2
p.H315Q
c.945T>G
1 paper
NM_001313998.2
p.H315delFs
c.945delA
1 paper
NM_001313998.2
p.A306S
c.916G>T
1 paper
NM_001313998.2
p.N304delFs
c.912delA
1 paper
NM_001313998.2
p.H315_A318delFs
c.944_953del10
3 papers
NM_001313998.2
p.E302K
c.904G>A
2 papers
NM_001313998.2
p.W300R
c.898T>C
2 papers
NM_001313998.2
p.W300R
c.898T>A
1 paper
NM_001313998.2
p.E299E
c.897A>G
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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."