Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.T417A

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.T417A
c.1249A>G
Surrounding Variants
1 paper
NM_001313998.2
p.I415T
c.1244T>C
2 papers
NM_001313998.2
p.I415V
c.1243A>G
1 paper
NM_001313998.2
p.S414_F419del6
c.1240_1256del18
1 paper
NM_001313998.2
p.S412fs
c.1234_1235fs
1 paper
NM_001313998.2
p.D405_S409del5
c.1213_1226del15
1 paper
NM_001313998.2
p.S409R
c.1227T>G
1 paper
NM_001313998.2
p.S409R
c.1227T>A
1 paper
NM_001313998.2
p.S409R
c.1225A>C
2 papers
NM_001313998.2
p.W425S
c.1274G>C
1 paper
NM_001313998.2
p.W425C
c.1275G>T
1 paper
NM_001313998.2
p.W425C
c.1275G>C
2 papers
NM_001313998.2
p.G408R
c.1222G>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."