Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.R167delFs

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.R167delFs
c.499delG
Surrounding Variants
1 paper
NM_001387011.1
p.R167fs
c.499_500fs
1 paper
NM_001387011.1
p.R168W
c.502C>T
4 papers
NM_001387011.1
p.P170S
c.508C>T
1 paper
NM_001387011.1
p.H161P
c.482A>C
1 paper
NM_001387011.1
p.I160F
c.478A>T
2 papers
NM_001387011.1
p.A157V
c.470C>T
1 paper
NM_001387011.1
p.S178N
c.533G>A
1 paper
NM_001387011.1
p.A155V
c.464C>T
1 paper
NM_001387011.1
p.R182W
c.544C>T
1 paper
NM_001387011.1
p.Q150*
c.448C>T
1 paper
NM_001387011.1
p.A149D
c.446C>A
1 paper
NM_001387011.1
p.L143L
c.427C>T
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