Varaico: Literature-Extracted Genetic Variants

Gene:ATG13
Variant:p.D14H

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.D14H
c.40G>C
Surrounding Variants
1 paper
NM_001346311.2
p.D9G
c.26A>G
1 paper
NM_001346311.2
p.N6I
c.17A>T
3 papers
NM_001346311.2
p.L5V
c.13C>G
1 paper
NM_001346311.2
p.K23_T24insFs
c.69_70ins7
1 paper
NM_001346311.2
p.K23_T24insFs
c.69_70ins10
1 paper
NM_001346311.2
p.T24fs
c.70_71fs
1 paper
NM_001346311.2
p.L33R
c.98T>G
1 paper
NM_001346311.2
p.G34G
c.102T>A
1 paper
NM_001346311.2
p.S43T
c.127T>A
1 paper
NM_001346311.2
p.P45P
c.135A>C
1 paper
NM_001346311.2
p.W50L
c.149G>T
1 paper
NM_001346311.2
p.L69_A70ins7
c.205_209ins21
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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."