Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.R236L

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.R236L
c.707G>T
Surrounding Variants
2 papers
NM_001387011.1
p.T237M
c.710C>T
1 paper
NM_001387011.1
p.T237T
c.711G>C
1 paper
NM_001387011.1
p.S231L
c.692C>T
1 paper
NM_001387011.1
p.H245delFs
c.733delG
1 paper
NM_001387011.1
p.M246V
c.736A>G
1 paper
NM_001387011.1
p.R226C
c.676C>T
1 paper
NM_001387011.1
p.Q225H
c.675G>T
1 paper
NM_001387011.1
p.Q225H
c.675G>C
2 papers
NM_001387011.1
p.R224H
c.671G>A
1 paper
NM_001387011.1
p.H222delFs
c.666delG
1 paper
NM_001387011.1
p.Y223fs
c.667_668fs
1 paper
NM_001387011.1
p.R250C
c.748C>T
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