Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.H94fs

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.H94fs
c.280_281fs
Surrounding Variants
2 papers
NM_001387011.1
p.G93A
c.278G>C
1 paper
NM_001387011.1
p.R95H
c.284G>A
1 paper
NM_001387011.1
p.R96L
c.287G>T
1 paper
NM_001387011.1
p.T97I
c.290C>T
2 papers
NM_001387011.1
p.S90F
c.269C>T
1 paper
NM_001387011.1
p.W99R
c.295T>C
1 paper
NM_001387011.1
p.W99R
c.295T>A
1 paper
NM_001387011.1
p.T102A
c.304A>G
1 paper
NM_001387011.1
p.G85D
c.254G>A
3 papers
NM_001387011.1
p.T80M
c.239C>T
1 paper
NM_001387011.1
p.S108insFs
c.322_323insGT
1 paper
NM_001387011.1
p.S108*
c.323C>G
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