Varaico: Literature-Extracted Genetic Variants

Gene:ATG7

ATG7

246 papers

RefSeq Summary

This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways d...

Pfam Domains

ATG7_Naa 13–323UCSCUbiquitin-like modifier-activating enzyme ATG7 N-terminus
ThiFaa 335–617UCSCThiF family

Gene Aliases

HGNC Name

autophagy related 7

HGNC Previous Symbol

APG7L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 199 variants
28 papers
NM_001349232.2
p.V471A
c.1412T>C
13 papers
NM_001349232.2
p.P426L
c.1277C>T
9 papers
NM_001349232.2
p.R659*
c.1975C>T
5 papers
NM_001349232.2
p.A388T
c.1162G>A
5 papers
NM_001349232.2
p.D522E
c.1566C>A
5 papers
NM_001349232.2
p.D522E
c.1566C>G
5 papers
NM_001349232.2
p.A530T
c.1588G>A
5 papers
NM_001349232.2
p.C572S
c.1714T>A
5 papers
NM_001349232.2
p.C572S
c.1715G>C
5 papers
NM_001349232.2
p.V588M
c.1762G>A
4 papers
NM_001349232.2
p.K130*
c.388A>T
3 papers
NM_001349232.2
p.F403L
c.1207T>C
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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."