Gene Variant Detail

Gene AKT1
Variant L321A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions AKT1 L321A lies within the protein kinase domain of the Akt1 protein (UniProt.org). L321A confers a gain of function to the Akt1 protein as demonstrated by increased kinase activity and promotion of survival in cell culture (PMID: 23134728).
Associated Drug Resistance

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Transcript NM_001014432
gDNA chr14:g.104773088_104773089delAGinsGC
cDNA c.961_962delCTinsGC
Protein p.L321A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017021077 chr14:g.104773088_104773089delAGinsGC c.961_962delCTinsGC p.L321A RefSeq GRCh38/hg38
NM_001014432 chr14:g.104773088_104773089delAGinsGC c.961_962delCTinsGC p.L321A RefSeq GRCh38/hg38
NM_001014431 chr14:g.104773088_104773089delAGinsGC c.961_962delCTinsGC p.L321A RefSeq GRCh38/hg38
NM_005163 chr14:g.104773088_104773089delAGinsGC c.961_962delCTinsGC p.L321A RefSeq GRCh38/hg38
XM_017021076 chr14:g.104773088_104773089delAGinsGC c.961_962delCTinsGC p.L321A RefSeq GRCh38/hg38
XM_017021078 chr14:g.104773088_104773089delAGinsGC c.961_962delCTinsGC p.L321A RefSeq GRCh38/hg38
XM_005267401 chr14:g.104773088_104773089delAGinsGC c.961_962delCTinsGC p.L321A RefSeq GRCh38/hg38
XM_017021075 chr14:g.104773088_104773089delAGinsGC c.961_962delCTinsGC p.L321A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Protein Effect Treatment Approaches
AKT1 L321A gain of function Akt Inhibitor (Pan) Akt1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References