Varaico: Literature-Extracted Genetic Variants

Gene:ATG9A
Variant:p.R275C

ATG9A

127 papers

Pfam Domains

ATG9aa 35–525UCSCAutophagy protein ATG9

Gene Aliases

HGNC Name

autophagy related 9A

HGNC Previous Symbol

APG9L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001077198.3
p.R275C
c.823C>T
Surrounding Variants
1 paper
NM_001077198.3
p.R275_G276del1
c.825_827delCCA
1 paper
NM_001077198.3
p.R275_G276del2
c.823_827del6
2 papers
NM_001077198.3
p.Q284P
c.851A>C
1 paper
NM_001077198.3
p.R285H
c.854G>A
1 paper
NM_001077198.3
p.R289H
c.866G>A
1 paper
NM_001077198.3
p.I254N
c.761T>A
1 paper
NM_001077198.3
p.K248*
c.742A>T
2 papers
NM_001077198.3
p.G238R
c.712G>C
2 papers
NM_001077198.3
p.G238R
c.712G>A
1 paper
NM_001077198.3
p.L237V
c.709C>G
1 paper
NM_001077198.3
p.F232Y
c.695T>A
1 paper
NM_001077198.3
p.E318K
c.952G>A
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