Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.K45R

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.K45R
c.134A>G
Surrounding Variants
1 paper
NM_001387011.1
p.K41R
c.122A>G
1 paper
NM_001387011.1
p.R38Q
c.113G>A
1 paper
NM_001387011.1
p.R38W
c.112C>T
1 paper
NM_001387011.1
p.K36R
c.107A>G
1 paper
NM_001387011.1
p.D35H
c.103G>C
1 paper
NM_001387011.1
p.E34V
c.101A>T
2 papers
NM_001387011.1
p.V33G
c.98T>G
2 papers
NM_001387011.1
p.E31E
c.93G>A
2 papers
NM_001387011.1
p.Q30R
c.89A>G
1 paper
NM_001387011.1
p.R27W
c.79C>T
1 paper
NM_001387011.1
p.M23T
c.68T>C
1 paper
NM_001387011.1
p.R21Q
c.62G>A
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