Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.E347K

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.E347K
c.1039G>A
Surrounding Variants
2 papers
NM_001387011.1
p.P348S
c.1042C>T
1 paper
NM_001387011.1
p.P352S
c.1054C>T
1 paper
NM_001387011.1
p.F341L
c.1021T>C
1 paper
NM_001387011.1
p.T338I
c.1013C>T
2 papers
NM_001387011.1
p.T358M
c.1073C>T
1 paper
NM_001387011.1
p.Q359K
c.1075C>A
1 paper
NM_001387011.1
p.Q359R
c.1076A>G
1 paper
NM_001387011.1
p.P331fs
c.991_992fs
1 paper
NM_017749.3
p.L274F
c.820C>T
1 paper
NM_001387011.1
p.L365delFs
c.1093delG
1 paper
NM_001387011.1
p.P368L
c.1103C>T
1 paper
NM_001387011.1
p.L322I
c.964C>A
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