Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.L508R

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.L508R
c.1523T>G
Surrounding Variants
3 papers
NM_001387011.1
p.R512Q
c.1535G>A
1 paper
NM_001387011.1
p.Q514*
c.1540C>T
1 paper
NM_001387011.1
p.Q500*
c.1498C>T
1 paper
NM_001387011.1
p.G522V
c.1565G>T
1 paper
NM_001387011.1
p.E523*
c.1567G>T
1 paper
NM_001387011.1
p.G493D
c.1478G>A
1 paper
NM_001387011.1
p.S492L
c.1475C>T
1 paper
NM_001387011.1
p.S492W
c.1475C>G
1 paper
NM_001387011.1
p.N491N
c.1473C>T
1 paper
NM_001387011.1
p.Q531L
c.1592A>T
1 paper
NM_001387011.1
p.E532K
c.1594G>A
1 paper
NM_001387011.1
p.T479I
c.1436C>T
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