Varaico: Literature-Extracted Genetic Variants

Gene:ATG3
Variant:p.E14E

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.E14E
c.42A>G
Surrounding Variants
1 paper
NM_022488.5
p.K9insFs
c.27dupG
1 paper
NM_022488.5
p.L19Q
c.56T>A
1 paper
NM_022488.5
p.P21A
c.61C>G
1 paper
NM_022488.5
p.T7insFs
c.19dupA
1 paper
NM_022488.5
p.M1_I5del5
c.1_14del15
1 paper
NM_022488.5
p.L23P
c.68T>C
1 paper
NM_022488.5
p.M1_Q2delFs
c.1_5del5
1 paper
NM_022488.5
p.M1V
c.1A>G
1 paper
NM_022488.5
p.K27K
c.81G>A
1 paper
NM_022488.5
p.E38_F39Splc
c.114+1G>A
1 paper
NM_022488.5
p.A42G
c.125C>G
1 paper
NM_022488.5
p.A42insFs
c.125dupC
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