Varaico: Literature-Extracted Genetic Variants

Gene:ATG3
Variant:p.A42G

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.A42G
c.125C>G
Surrounding Variants
1 paper
NM_022488.5
p.A42insFs
c.125dupC
1 paper
NM_022488.5
p.T52R
c.155C>G
1 paper
NM_022488.5
p.Q54_W55del1
c.161_163delATT
1 paper
NM_022488.5
p.W55Splc
c.165-1G>T
1 paper
NM_022488.5
p.T57T
c.171A>G
1 paper
NM_022488.5
p.E59G
c.176A>G
1 paper
NM_022488.5
p.K62delFs
c.186delT
1 paper
NM_022488.5
p.L74F
c.222G>T
1 paper
NM_022488.5
p.L74F
c.222G>C
1 paper
NM_022488.5
p.T76_K77delFs
c.228_229delTG
1 paper
NM_022488.5
p.V79Splc
c.235+1G>A
1 paper
NM_022488.5
p.V79Splc
c.236-2A>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."