Varaico: Literature-Extracted Genetic Variants

Gene:ATG9A
Variant:p.R330C

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.R330C
c.988C>T
Surrounding Variants
1 paper
NM_001077198.3
p.R330L
c.989G>T
1 paper
NM_001077198.3
p.L327fs
c.979_980fs
1 paper
NM_001077198.3
p.L327delFs
c.979delG
1 paper
NM_001077198.3
p.A326fs
c.976_977fs
1 paper
NM_001077198.3
p.A326T
c.976G>A
1 paper
NM_001077198.3
p.L334F
c.1000C>T
1 paper
NM_001077198.3
p.P324S
c.970C>T
1 paper
NM_001077198.3
p.E323Q
c.967G>C
2 papers
NM_001077198.3
p.R322L
c.965G>T
1 paper
NM_001077198.3
p.R322Q
c.965G>A
1 paper
NM_001077198.3
p.L320V
c.958C>G
1 paper
NM_001077198.3
p.E318K
c.952G>A
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