Varaico: Literature-Extracted Genetic Variants

Gene:ATG13
Variant:p.Y118D

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.Y118D
c.352T>G
Surrounding Variants
1 paper
NM_001346311.2
p.Y118N
c.352T>A
1 paper
NM_001346311.2
p.V117E
c.350T>A
1 paper
NM_001346311.2
p.N119I
c.356A>T
1 paper
NM_001346311.2
p.T116M
c.347C>T
1 paper
NM_001346311.2
p.Y115D
c.343T>G
1 paper
NM_001346311.2
p.S114F
c.341C>T
1 paper
NM_001346311.2
p.D108H
c.322G>C
3 papers
NM_001346311.2
p.I131V
c.391A>G
1 paper
NM_001346311.2
p.R142G
c.424A>G
1 paper
NM_001346311.2
p.Y152D
c.454T>G
1 paper
NM_001346311.2
p.Y152C
c.455A>G
2 papers
NM_001346311.2
p.R153Splc
c.458+1G>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."