Gene Variant Detail

Gene AKT1
Variant D323H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions AKT1 D323H lies within the protein kinase domain of the Akt1 protein (UniProt.org). D323H results in a gain of function of the Akt1 protein as indicated by increased kinase activity, constitutive downstream signaling, transformation of cultured cells, and tumor growth in xenograft models (PMID: 23134728, PMID: 26701849).
Associated Drug Resistance

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Transcript NM_001014432
gDNA chr14:g.104773083C>G
cDNA c.967G>C
Protein p.D323H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005267401 chr14:g.104773083C>G c.967G>C p.D323H RefSeq GRCh38/hg38
XM_017021076 chr14:g.104773083C>G c.967G>C p.D323H RefSeq GRCh38/hg38
XM_017021078 chr14:g.104773083C>G c.967G>C p.D323H RefSeq GRCh38/hg38
XM_017021075 chr14:g.104773083C>G c.967G>C p.D323H RefSeq GRCh38/hg38
XM_017021077 chr14:g.104773083C>G c.967G>C p.D323H RefSeq GRCh38/hg38
NM_001014432 chr14:g.104773083C>G c.967G>C p.D323H RefSeq GRCh38/hg38
NM_001014431 chr14:g.104773083C>G c.967G>C p.D323H RefSeq GRCh38/hg38
NM_005163 chr14:g.104773083C>G c.967G>C p.D323H 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 D323H gain of function Akt Inhibitor (Pan) Akt1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References