Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.S664P

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.S664P
c.1990T>C
Surrounding Variants
1 paper
NM_001387011.1
p.S671*
c.2012C>G
1 paper
NM_001387011.1
p.S671*
c.2012C>A
1 paper
NM_001387011.1
p.G655C
c.1963G>T
1 paper
NM_001387011.1
p.E673D
c.2019G>T
1 paper
NM_001387011.1
p.E673D
c.2019G>C
1 paper
NM_001387011.1
p.M679I
c.2037G>T
1 paper
NM_001387011.1
p.M679I
c.2037G>C
1 paper
NM_001387011.1
p.M679I
c.2037G>A
1 paper
NM_001387011.1
p.V648fs
c.1942_1943fs
1 paper
NM_001387011.1
p.E681Q
c.2041G>C
1 paper
NM_001387011.1
p.T645A
c.1933A>G
1 paper
NM_001387011.1
p.R644M
c.1931G>T
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