Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.V298M

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.V298M
c.892G>A
Surrounding Variants
1 paper
NM_001313998.2
p.V298A
c.893T>C
1 paper
NM_001313998.2
p.P297P
c.891C>T
1 paper
NM_001313998.2
p.V298V
c.894G>A
1 paper
NM_001313998.2
p.E299E
c.897A>G
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.S295G
c.883A>G
3 papers
NM_001313998.2
p.E302K
c.904G>A
1 paper
NM_001313998.2
p.R292H
c.875G>A
1 paper
NM_001313998.2
p.R292C
c.874C>T
1 paper
NM_001313998.2
p.N304delFs
c.912delA
1 paper
NM_001313998.2
p.L290P
c.869T>C
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