Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.N9insFs

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.N9insFs
c.27dupC
Surrounding Variants
1 paper
NM_001313998.2
p.N8K
c.24C>G
1 paper
NM_001313998.2
p.N8K
c.24C>A
1 paper
NM_001313998.2
p.S7insFs
c.19dupT
1 paper
NM_001313998.2
p.M1_K5del5
c.1_14del15
2 papers
NM_001313998.2
p.V14E
c.41T>A
1 paper
NM_001313998.2
p.S15N
c.44G>A
1 paper
NM_001313998.2
p.M1_E2delFs
c.1_5del5
1 paper
NM_001313998.2
p.V17E
c.50T>A
1 paper
NM_001313998.2
p.E2E
c.6A>G
1 paper
NM_001313998.2
p.M1V
c.1A>G
1 paper
NM_001313998.2
p.Q19P
c.56A>C
1 paper
NM_001313998.2
p.C21S
c.62G>C
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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."