Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.S70F

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.S70F
c.209C>T
Surrounding Variants
1 paper
NM_001387011.1
p.S70C
c.209C>G
1 paper
NM_001387011.1
p.A69G
c.206C>G
1 paper
NM_001387011.1
p.L67F
c.199C>T
1 paper
NM_001387011.1
p.N76T
c.227A>C
1 paper
NM_001387011.1
p.I77S
c.230T>G
1 paper
NM_001387011.1
p.Y78C
c.233A>G
3 papers
NM_001387011.1
p.T80M
c.239C>T
1 paper
NM_001387011.1
p.G85D
c.254G>A
2 papers
NM_001387011.1
p.S90F
c.269C>T
2 papers
NM_001387011.1
p.G93A
c.278G>C
1 paper
NM_001387011.1
p.H94fs
c.280_281fs
1 paper
NM_001387011.1
p.R95H
c.284G>A
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