Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.T57S

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.T57S
c.169A>T
Surrounding Variants
1 paper
NM_001313998.2
p.T57A
c.169A>G
1 paper
NM_001313998.2
p.P54_G55del1
c.161_163delCTG
1 paper
NM_001313998.2
p.P54A
c.160C>G
1 paper
NM_001313998.2
p.T62I
c.185C>T
1 paper
NM_001313998.2
p.T62delFs
c.186delA
1 paper
NM_001313998.2
p.A50A
c.150C>G
1 paper
NM_001313998.2
p.T48P
c.142A>C
1 paper
NM_001313998.2
p.E66E
c.198G>A
1 paper
NM_001313998.2
p.P45_L46Fs
c.134_136delinsCCFs
1 paper
NM_001313998.2
p.A44P
c.130G>C
1 paper
NM_001313998.2
p.A44Splc
c.131-1G>A
1 paper
NM_001313998.2
p.A44Splc
c.131-2A>G
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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."