Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.N491N

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.N491N
c.1473C>T
Surrounding Variants
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.G493D
c.1478G>A
1 paper
NM_001387011.1
p.Q500*
c.1498C>T
1 paper
NM_001387011.1
p.T479I
c.1436C>T
1 paper
NM_001387011.1
p.T479A
c.1435A>G
1 paper
NM_001387011.1
p.A478T
c.1432G>A
1 paper
NM_001387011.1
p.G476E
c.1427G>A
1 paper
NM_001387011.1
p.L508R
c.1523T>G
1 paper
NM_001387011.1
p.A474T
c.1420G>A
1 paper
NM_001387011.1
p.P473fs
c.1417_1418fs
1 paper
NM_001387011.1
p.G471V
c.1412G>T
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