Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.L500F

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.L500F
c.1500G>T
Surrounding Variants
1 paper
NM_001349232.2
p.L500F
c.1500G>C
1 paper
NM_001349232.2
p.V495I
c.1483G>A
2 papers
NM_001349232.2
p.G511D
c.1532G>A
3 papers
NM_001349232.2
p.L512P
c.1535T>C
1 paper
NM_001349232.2
p.A520D
c.1559C>A
5 papers
NM_001349232.2
p.D522E
c.1566C>A
5 papers
NM_001349232.2
p.D522E
c.1566C>G
2 papers
NM_001349232.2
p.P525S
c.1573C>T
5 papers
NM_001349232.2
p.A530T
c.1588G>A
2 papers
NM_001349232.2
p.K493R
c.1478A>G
1 paper
NM_001349232.2
p.K491N
c.1473G>C
1 paper
NM_001349232.2
p.K491N
c.1473G>T
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