Varaico: Literature-Extracted Genetic Variants

Gene:BECN1

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
1–12 of 238 variants
3 papers
NM_001313998.2
p.C159R
c.475T>C
3 papers
NM_001313998.2
p.L198P
c.593T>C
3 papers
NM_001313998.2
p.E220K
c.658G>A
3 papers
NM_001313998.2
p.Y233F
c.698A>T
3 papers
NM_001313998.2
p.V250A
c.749T>C
3 papers
NM_001313998.2
p.E302K
c.904G>A
3 papers
NM_001313998.2
p.K437R
c.1310A>G
2 papers
NM_001313998.2
p.V14E
c.41T>A
2 papers
NM_001313998.2
p.R74H
c.221G>A
2 papers
NM_001313998.2
p.S90A
c.268T>G
2 papers
NM_001313998.2
p.K117R
c.350A>G
2 papers
NM_001313998.2
p.T130P
c.388A>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."