Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.V602I

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.V602I
c.1804G>A
Surrounding Variants
1 paper
NM_001387011.1
p.Q601H
c.1803G>T
1 paper
NM_001387011.1
p.Q601H
c.1803G>C
1 paper
NM_001387011.1
p.W600*
c.1800G>A
1 paper
NM_001387011.1
p.W600*
c.1799G>A
1 paper
NM_001387011.1
p.S605F
c.1814C>T
1 paper
NM_001387011.1
p.S598P
c.1792T>C
1 paper
NM_001387011.1
p.E595Q
c.1783G>C
1 paper
NM_001387011.1
p.E595K
c.1783G>A
1 paper
NM_001387011.1
p.S611*
c.1832C>G
1 paper
NM_001387011.1
p.S611*
c.1832C>A
1 paper
NM_001387011.1
p.Y591*
c.1773C>G
1 paper
NM_001387011.1
p.Y591*
c.1773C>A
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