Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.Q453*

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.Q453*
c.1357C>T
Surrounding Variants
1 paper
NM_001387011.1
p.G456C
c.1366G>T
1 paper
NM_001387011.1
p.V450fs
c.1348_1349fs
1 paper
NM_001387011.1
p.G457S
c.1369G>A
1 paper
NM_001387011.1
p.Q459*
c.1375C>T
1 paper
NM_001387011.1
p.S444L
c.1331C>T
1 paper
NM_001387011.1
p.T464A
c.1390A>G
1 paper
NM_001387011.1
p.R439K
c.1316G>A
1 paper
NM_001387011.1
p.P438L
c.1313C>T
1 paper
NM_001387011.1
p.P437L
c.1310C>T
1 paper
NM_001387011.1
p.P437fs
c.1309_1310fs
1 paper
NM_001387011.1
p.M435insFs
c.1305dupG
1 paper
NM_001387011.1
p.P436fs
c.1306_1307fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."