Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.H597_P598del2

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
Selected Variant
1 paper
NM_001349232.2
p.H597_P598del2
c.1789_1793del6
Surrounding Variants
5 papers
NM_001349232.2
p.V588M
c.1762G>A
1 paper
NM_001349232.2
p.A587_V588del2
c.1759_1763del6
1 paper
NM_001349232.2
p.G584R
c.1750G>A
1 paper
NM_001349232.2
p.G584R
c.1750G>C
2 papers
NM_001349232.2
p.R576H
c.1727G>A
5 papers
NM_001349232.2
p.C572S
c.1715G>C
5 papers
NM_001349232.2
p.C572S
c.1714T>A
1 paper
NM_001349232.2
p.Q571*
c.1711C>T
1 paper
NM_001349232.2
p.L619L
c.1857T>C
2 papers
NM_001349232.2
p.H624Y
c.1870C>T
5 papers
NM_001349232.2
p.A530T
c.1588G>A
2 papers
NM_001349232.2
p.P525S
c.1573C>T
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