Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.G217*

AMBRA1

122 papers

Pfam Domains

WD40aa 85–124UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

autophagy and beclin 1 regulator 1

HGNC Alias Symbols

FLJ20294; KIAA1736; WDR94; DCAF3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387011.1
p.G217*
c.649G>T
Surrounding Variants
1 paper
NM_001387011.1
p.G217V
c.650G>T
1 paper
NM_001387011.1
p.D216N
c.646G>A
1 paper
NM_001387011.1
p.D208_I215del0
c.624_644del21
1 paper
NM_001387011.1
p.E219*
c.655G>T
1 paper
NM_001387011.1
p.E219Q
c.655G>C
2 papers
NM_001387011.1
p.P214A
c.640C>G
1 paper
NM_001387011.1
p.H222delFs
c.666delG
1 paper
NM_001387011.1
p.Y223fs
c.667_668fs
1 paper
NM_001387011.1
p.E210K
c.628G>A
2 papers
NM_001387011.1
p.R224H
c.671G>A
1 paper
NM_001387011.1
p.Q225H
c.675G>T
1 paper
NM_001387011.1
p.Q225H
c.675G>C
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