Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.S278F

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.S278F
c.833C>T
Surrounding Variants
1 paper
NM_001387011.1
p.E280K
c.838G>A
1 paper
NM_001387011.1
p.P275delFs
c.823delG
1 paper
NM_001387011.1
p.P272L
c.815C>T
1 paper
NM_001387011.1
p.A286V
c.857C>T
1 paper
NM_001387011.1
p.S269fs
c.805_806fs
2 papers
NM_001387011.1
p.G257fs
c.769_770fs
2 papers
NM_001387011.1
p.G257delFs
c.770delC
1 paper
NM_001387011.1
p.Q255*
c.763C>T
1 paper
NM_001387011.1
p.I254N
c.761T>A
1 paper
NM_001387011.1
p.Q303*
c.907C>T
1 paper
NM_001387011.1
p.S252T
c.754T>A
1 paper
NM_001387011.1
p.L305F
c.913C>T
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