Varaico: Literature-Extracted Genetic Variants

Gene:ATG13
Variant:p.R369R

ATG13

93 papers

RefSeq Summary

The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSe...

Pfam Domains

ATG13aa 76–195UCSCAutophagy-related protein 13

Gene Aliases

HGNC Name

autophagy related 13

HGNC Previous Symbol

KIAA0652

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001346311.2
p.R369R
c.1105A>C
Surrounding Variants
1 paper
NM_001346311.2
p.A373P
c.1117G>C
1 paper
NM_001346311.2
p.A346delFs
c.1038delT
1 paper
NM_001346311.2
p.G342A
c.1025G>C
1 paper
NM_001346311.2
p.Q333_L334Splc
c.1000-9T>C
1 paper
NM_001346311.2
p.Q333E
c.997C>G
1 paper
NM_001346311.2
p.D315G
c.944A>G
1 paper
NM_001346311.2
p.F273V
c.817T>G
1 paper
NM_001346311.2
p.N387H
c.1159A>C
2 papers
NM_001346311.2
p.R392W
c.1174C>T
1 paper
NM_001346311.2
p.D397N
c.1189G>A
1 paper
NM_001346311.2
p.D448A
c.1343A>C
1 paper
NM_001346311.2
p.S454A
c.1360T>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."