Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.I207T

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.I207T
c.620T>C
Surrounding Variants
1 paper
NM_001313998.2
p.V208A
c.623T>C
1 paper
NM_001313998.2
p.R205L
c.614G>T
2 papers
NM_001313998.2
p.R205H
c.614G>A
1 paper
NM_001313998.2
p.A209E
c.626C>A
1 paper
NM_001313998.2
p.R205C
c.613C>T
1 paper
NM_001313998.2
p.N211D
c.631A>G
1 paper
NM_001313998.2
p.E210delFs
c.629delT
1 paper
NM_001313998.2
p.L212F
c.634C>T
1 paper
NM_001313998.2
p.V201A
c.602T>C
1 paper
NM_001313998.2
p.V201M
c.601G>A
1 paper
NM_001313998.2
p.D200D
c.600C>T
1 paper
NM_001313998.2
p.E199_D200delFs
c.597_598delCT
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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."