Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.A388T

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
5 papers
NM_001349232.2
p.A388T
c.1162G>A
Surrounding Variants
1 paper
NM_001349232.2
p.Q398*
c.1192C>T
2 papers
NM_001349232.2
p.W377G
c.1129T>G
1 paper
NM_001349232.2
p.G376C
c.1126G>T
1 paper
NM_001349232.2
p.M375_G376Splc
c.1126-2A>C
3 papers
NM_001349232.2
p.F403L
c.1207T>C
3 papers
NM_001349232.2
p.F403L
c.1209T>A
3 papers
NM_001349232.2
p.F403L
c.1209T>G
1 paper
NM_001349232.2
p.E404*
c.1210G>T
1 paper
NM_001349232.2
p.D405_G409del5
c.1213_1226del15
1 paper
NM_001349232.2
p.G409C
c.1225G>T
1 paper
NM_001349232.2
p.A414_D419del6
c.1240_1256del18
1 paper
NM_001349232.2
p.A414P
c.1240G>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."