Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.R16*

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.R16*
c.46C>T
Surrounding Variants
1 paper
NM_001387011.1
p.R16fs
c.46_47fs
1 paper
NM_001387011.1
p.E17D
c.51A>T
1 paper
NM_001387011.1
p.W14R
c.40T>C
1 paper
NM_001387011.1
p.W14R
c.40T>A
1 paper
NM_001387011.1
p.R18W
c.52C>T
1 paper
NM_001387011.1
p.L13R
c.38T>G
1 paper
NM_001387011.1
p.R11W
c.31C>T
1 paper
NM_001387011.1
p.R21Q
c.62G>A
1 paper
NM_001387011.1
p.M23T
c.68T>C
1 paper
NM_001387011.1
p.K7R
c.20A>G
1 paper
NM_001387011.1
p.E6V
c.17A>T
1 paper
NM_001387011.1
p.P5L
c.14C>T
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