Gene Variant Detail

Gene AKT1
Variant E49K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions AKT1 E49K lies within the PH domain of the Akt1 protein (UniProt.org). E49K results in constitutive activation of Akt1, increased phosphorylation of GSK3-beta, and is transforming in cell culture (PMID: 19802009).
Associated Drug Resistance

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Transcript NM_001014432
gDNA chr14:g.104780118C>T
cDNA c.145G>A
Protein p.E49K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017021075 chr14:g.104780118C>T c.145G>A p.E49K RefSeq GRCh38/hg38
NM_001014432 chr14:g.104780118C>T c.145G>A p.E49K RefSeq GRCh38/hg38
XM_017021077 chr14:g.104780118C>T c.145G>A p.E49K RefSeq GRCh38/hg38
XM_017021076 chr14:g.104780118C>T c.145G>A p.E49K RefSeq GRCh38/hg38
NM_005163 chr14:g.104780118C>T c.145G>A p.E49K RefSeq GRCh38/hg38
NM_001014431 chr14:g.104780118C>T c.145G>A p.E49K RefSeq GRCh38/hg38
XM_005267401 chr14:g.104780118C>T c.145G>A p.E49K RefSeq GRCh38/hg38
XM_017021078 chr14:g.104780118C>T c.145G>A p.E49K 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

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
AKT1 E49K gain of function Akt Inhibitor (Pan) Akt1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References