Gene Variant Detail

Gene AKT1
Variant Q79K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions AKT1 Q79K lies within the PH domain of the Akt1 protein (UniProt.org). Q79K results in increased Akt1 kinase activity, downstream signaling (PMID: 27232857), and is transforming in cell culture (PMID: 23134728, PMID: 23237847).
Associated Drug Resistance

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Transcript NM_001014432
gDNA chr14:g.104776711G>T
cDNA c.235C>A
Protein p.Q79K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001014431 chr14:g.104776711G>T c.235C>A p.Q79K RefSeq GRCh38/hg38
XM_005267401 chr14:g.104776711G>T c.235C>A p.Q79K RefSeq GRCh38/hg38
NM_001014432 chr14:g.104776711G>T c.235C>A p.Q79K RefSeq GRCh38/hg38
NM_005163 chr14:g.104776711G>T c.235C>A p.Q79K RefSeq GRCh38/hg38
XM_017021075 chr14:g.104776711G>T c.235C>A p.Q79K RefSeq GRCh38/hg38
XM_017021076 chr14:g.104776711G>T c.235C>A p.Q79K RefSeq GRCh38/hg38
XM_017021078 chr14:g.104776711G>T c.235C>A p.Q79K RefSeq GRCh38/hg38
XM_017021077 chr14:g.104776711G>T c.235C>A p.Q79K 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
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Molecular Profile Protein Effect Treatment Approaches
AKT1 Q79K gain of function Akt Inhibitor (Pan) Akt1 Inhibitor
AKT1 Q79K BRAF V600X PTEN pos
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
AKT1 Q79K ovarian cancer predicted - sensitive Capivasertib Case Reports/Case Series Actionable In a Phase I trial, an ovarian cancer patient harboring AKT1 Q79K demonstrated tumor regression that lasted 14 months when treated with Capivasertib (AZD5363) (PMID: 28489509; NCT01226316). 28489509
AKT1 Q79K BRAF V600X PTEN pos melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, expression of AKT1 Q79K in a wild-type PTEN-expressing BRAF V600-mutant melanoma cell line conferred resistance to Zelboraf (vemurafenib) in culture (PMID: 24265152). 24265152
AKT1 Q79K BRAF V600X PTEN pos melanoma sensitive MK2206 + Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, the combination of MK2206 and Zelboraf (vemurafenib) inhibited AKT activation and growth of PTEN-expressing BRAF V600-mutant melanoma cells expressing AKT1 Q79K in culture, with increased efficacy over either agent alone (PMID: 24265152). 24265152