Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.S113A

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
2 papers
NM_001387011.1
p.S113A
c.337T>G
Surrounding Variants
2 papers
NM_001387011.1
p.C115F
c.344G>T
3 papers
NM_001387011.1
p.L110F
c.328C>T
1 paper
NM_001387011.1
p.S108*
c.323C>G
1 paper
NM_001387011.1
p.S108*
c.323C>A
1 paper
NM_001387011.1
p.S108insFs
c.322_323insGT
1 paper
NM_001387011.1
p.E119K
c.355G>A
1 paper
NM_001387011.1
p.E119A
c.356A>C
1 paper
NM_001387011.1
p.V120I
c.358G>A
1 paper
NM_001387011.1
p.T102A
c.304A>G
1 paper
NM_001387011.1
p.W99R
c.295T>C
1 paper
NM_001387011.1
p.W99R
c.295T>A
1 paper
NM_001387011.1
p.T97I
c.290C>T
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