Varaico: Literature-Extracted Genetic Variants

Gene:ATG3
Variant:p.E275E

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.E275E
c.825G>A
Surrounding Variants
1 paper
NM_022488.5
p.A278V
c.833C>T
1 paper
NM_022488.5
p.K272R
c.815A>G
1 paper
NM_022488.5
p.K271R
c.812A>G
1 paper
NM_022488.5
p.E268D
c.804G>T
1 paper
NM_022488.5
p.E268D
c.804G>C
1 paper
NM_022488.5
p.H266L
c.797A>T
1 paper
NM_022488.5
p.R265Splc
c.795-9G>T
2 papers
NM_001278712.2
p.L307_R308insFs
c.921_922insT
2 papers
NM_001278712.2
p.L307fs
c.919_920fs
1 paper
NM_022488.5
p.L290F
c.868C>T
1 paper
NM_022488.5
p.F296S
c.887T>C
1 paper
NM_022488.5
p.V297L
c.889G>T
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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."