Varaico: Literature-Extracted Genetic Variants

Gene:ATG3
Variant:p.E153A

ATG3

80 papers

RefSeq Summary

This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constit...

Pfam Domains

Autophagy_act_Caa 38–308UCSCAutophagocytosis associated protein, active-site domain

Gene Aliases

HGNC Name

autophagy related 3

HGNC Previous Symbol

APG3L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022488.5
p.E153A
c.458A>C
Surrounding Variants
1 paper
NM_022488.5
p.E149_D150delFs
c.447_448delCT
2 papers
NM_022488.5
p.D156A
c.467A>C
1 paper
NM_022488.5
p.D148_E149delFs
c.442_446del5
1 paper
NM_022488.5
p.E158A
c.473A>C
1 paper
NM_022488.5
p.E146insFs
c.437dupA
1 paper
NM_022488.5
p.L142I
c.424C>A
1 paper
NM_022488.5
p.D138_S140del0
c.414_419del6
1 paper
NM_022488.5
p.D138Y
c.412G>T
1 paper
NM_022488.5
p.D138insFs
c.412_413insT
1 paper
NM_022488.5
p.Q137insFs
c.411dupA
1 paper
NM_022488.5
p.R135_Q137delFs
c.405_409del5
1 paper
NM_022488.5
p.E125Q
c.373G>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."