Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.C311*

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.C311*
c.933C>A
Surrounding Variants
1 paper
NM_001387011.1
p.C311W
c.933C>G
1 paper
NM_001387011.1
p.R313H
c.938G>A
1 paper
NM_001387011.1
p.L310F
c.928C>T
1 paper
NM_001387011.1
p.C314S
c.941G>C
1 paper
NM_001387011.1
p.C314Y
c.941G>A
1 paper
NM_001387011.1
p.L305F
c.913C>T
1 paper
NM_001387011.1
p.Q303*
c.907C>T
1 paper
NM_001387011.1
p.L322I
c.964C>A
1 paper
NM_001387011.1
p.P331fs
c.991_992fs
1 paper
NM_001387011.1
p.A286V
c.857C>T
1 paper
NM_001387011.1
p.T338I
c.1013C>T
1 paper
NM_001387011.1
p.F341L
c.1021T>C
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