Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.E452D

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.E452D
c.1356G>C
Surrounding Variants
1 paper
NM_001349232.2
p.E452D
c.1356G>T
1 paper
NM_001349232.2
p.E452G
c.1355A>G
1 paper
NM_001349232.2
p.V458L
c.1372G>C
1 paper
NM_001349232.2
p.V458L
c.1372G>T
1 paper
NM_001349232.2
p.S447_S448del2
c.1339_1343del6
1 paper
NM_001349232.2
p.H442_F446del5
c.1324_1337del15
1 paper
NM_001349232.2
p.M435V
c.1303A>G
28 papers
NM_001349232.2
p.V471A
c.1412T>C
1 paper
NM_001349232.2
p.G432E
c.1295G>A
1 paper
NM_001349232.2
p.L474V
c.1420T>G
1 paper
NM_001349232.2
p.A430T
c.1288G>A
1 paper
NM_001349232.2
p.M475I
c.1425G>A
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