Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1

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
1–12 of 396 variants
4 papers
NM_001387011.1
p.P170S
c.508C>T
3 papers
NM_001387011.1
p.T80M
c.239C>T
3 papers
NM_001387011.1
p.L110F
c.328C>T
3 papers
NM_001387011.1
p.R512Q
c.1535G>A
2 papers
NM_001387011.1
p.Q30R
c.89A>G
2 papers
NM_001387011.1
p.E31E
c.93G>A
2 papers
NM_001387011.1
p.V33G
c.98T>G
2 papers
NM_001387011.1
p.P63S
c.187C>T
2 papers
NM_001387011.1
p.S90F
c.269C>T
2 papers
NM_001387011.1
p.G93A
c.278G>C
2 papers
NM_001387011.1
p.S113A
c.337T>G
2 papers
NM_001387011.1
p.C115F
c.344G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."