Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.K130*

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
4 papers
NM_001349232.2
p.K130*
c.388A>T
Surrounding Variants
1 paper
NM_001349232.2
p.V126L
c.376G>C
1 paper
NM_001349232.2
p.T135_A137delFs
c.405_409del5
2 papers
NM_001349232.2
p.A137S
c.409G>T
1 paper
NM_001349232.2
p.A137insFs
c.411dupA
1 paper
NM_001349232.2
p.T120insFs
c.359dupC
1 paper
NM_001349232.2
p.S118*
c.353C>A
1 paper
NM_001349232.2
p.S118*
c.353C>G
1 paper
NM_001349232.2
p.S118T
c.352T>A
1 paper
NM_001349232.2
p.K117Q
c.349A>C
1 paper
NM_001349232.2
p.N110I
c.329A>T
1 paper
NM_001349232.2
p.N110Y
c.328A>T
1 paper
NM_001349232.2
p.A108delFs
c.322delG
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