Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.E138_C140del0

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.E138_C140del0
c.414_419del6
Surrounding Variants
1 paper
NM_001313998.2
p.T141R
c.422C>G
1 paper
NM_001313998.2
p.D142G
c.425A>G
1 paper
NM_001313998.2
p.D142E
c.426T>A
1 paper
NM_001313998.2
p.E138*
c.412G>T
1 paper
NM_001313998.2
p.C137insFs
c.411dupT
1 paper
NM_001313998.2
p.P135_C137delFs
c.405_409del5
1 paper
NM_001313998.2
p.L144F
c.430C>T
1 paper
NM_001313998.2
p.D146insFs
c.437dupA
1 paper
NM_001313998.2
p.H134Y
c.400C>T
1 paper
NM_001313998.2
p.D133E
c.399T>A
1 paper
NM_001313998.2
p.D133A
c.398A>C
1 paper
NM_001313998.2
p.D149A
c.446A>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."