Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.P63S

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
2 papers
NM_001387011.1
p.P63S
c.187C>T
Surrounding Variants
1 paper
NM_001387011.1
p.P63L
c.188C>T
1 paper
NM_001387011.1
p.R65T
c.194G>C
1 paper
NM_001387011.1
p.A60T
c.178G>A
1 paper
NM_001387011.1
p.F57V
c.169T>G
1 paper
NM_001387011.1
p.T56A
c.166A>G
1 paper
NM_001387011.1
p.R54delFs
c.161delC
1 paper
NM_001387011.1
p.K45_R46Splc
c.136-9G>T
1 paper
NM_001387011.1
p.K45R
c.134A>G
1 paper
NM_001387011.1
p.K41R
c.122A>G
1 paper
NM_001387011.1
p.R38Q
c.113G>A
1 paper
NM_001387011.1
p.R38W
c.112C>T
1 paper
NM_001387011.1
p.K36R
c.107A>G
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