Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.N110Y

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.N110Y
c.328A>T
Surrounding Variants
1 paper
NM_001349232.2
p.N110I
c.329A>T
1 paper
NM_001349232.2
p.A108delFs
c.322delG
1 paper
NM_001349232.2
p.F96S
c.287T>C
1 paper
NM_001349232.2
p.E94K
c.280G>A
1 paper
NM_001349232.2
p.N91D
c.271A>G
1 paper
NM_001349232.2
p.T90I
c.269C>T
1 paper
NM_001349232.2
p.C80*
c.240C>A
1 paper
NM_001349232.2
p.T76S
c.227C>G
1 paper
NM_001349232.2
p.T76S
c.226A>T
1 paper
NM_001349232.2
p.T76_P77delFs
c.228_229delCC
1 paper
NM_001349232.2
p.S73N
c.218G>A
1 paper
NM_001349232.2
p.M72Splc
c.216-389G>T
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