Varaico: Literature-Extracted Genetic Variants

Gene:ATG10
Variant:p.S54_V55del1

ATG10

61 papers

RefSeq Summary

Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG...

Pfam Domains

Autophagy_act_Caa 11–207UCSCAutophagocytosis associated protein, active-site domain

Gene Aliases

HGNC Name

autophagy related 10

HGNC Previous Symbol

APG10L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031482.5
p.S54_V55del1
c.161_163delCTG
Surrounding Variants
1 paper
NM_031482.5
p.I50F
c.148A>T
6 papers
NM_031482.5
p.S62P
c.184T>C
1 paper
NM_031482.5
p.S62delFs
c.186delT
1 paper
NM_031482.5
p.C44*
c.132C>A
1 paper
NM_031482.5
p.C44S
c.131G>C
1 paper
NM_031482.5
p.C44S
c.130T>A
1 paper
NM_031482.5
p.Y42insFs
c.125dupA
1 paper
NM_031482.5
p.Q66H
c.198G>C
1 paper
NM_031482.5
p.Q66H
c.198G>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."