Varaico: Literature-Extracted Genetic Variants

Gene:ATG3
Variant:p.D307insFs

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
2 papers
NM_022488.5
p.D307insFs
c.920_921insT
Surrounding Variants
2 papers
NM_022488.5
p.D307insFs
c.920_921insTT
2 papers
NM_022488.5
p.D307_Y308insFs
c.921_922insT
1 paper
NM_022488.5
p.D307delFs
c.921delG
1 paper
NM_022488.5
p.Y306C
c.917A>G
1 paper
NM_022488.5
p.I304delFs
c.912delT
1 paper
NM_022488.5
p.V297L
c.889G>T
1 paper
NM_022488.5
p.V297L
c.889G>C
1 paper
NM_022488.5
p.F296S
c.887T>C
1 paper
NM_022488.5
p.L290F
c.868C>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.A278V
c.833C>T
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