Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.V471A

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
28 papers
NM_001349232.2
p.V471A
c.1412T>C
Surrounding Variants
1 paper
NM_001349232.2
p.L474V
c.1420T>G
1 paper
NM_001349232.2
p.M475I
c.1425G>A
1 paper
NM_001349232.2
p.R481Q
c.1442G>A
1 paper
NM_001349232.2
p.P484S
c.1450C>T
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.V486I
c.1456G>A
1 paper
NM_001349232.2
p.A488T
c.1462G>A
1 paper
NM_001349232.2
p.E452D
c.1356G>C
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.K491N
c.1473G>C
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