Gene Variant Detail

Gene AKT1
Variant N53H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions AKT1 N53H lies within the PH domain of the Akt1 protein (UniProt.org). N53H has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Akt1 in culture and is predicted to confer a loss of function to Akt1 (PMID: 29533785).
Associated Drug Resistance

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Transcript NM_001014432
gDNA chr14:g.104780106T>G
cDNA c.157A>C
Protein p.N53H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005267401 chr14:g.104780106T>G c.157A>C p.N53H RefSeq GRCh38/hg38
XM_017021076 chr14:g.104780106T>G c.157A>C p.N53H RefSeq GRCh38/hg38
NM_005163 chr14:g.104780106T>G c.157A>C p.N53H RefSeq GRCh38/hg38
XM_017021077 chr14:g.104780106T>G c.157A>C p.N53H RefSeq GRCh38/hg38
XM_017021075 chr14:g.104780106T>G c.157A>C p.N53H RefSeq GRCh38/hg38
NM_001014432 chr14:g.104780106T>G c.157A>C p.N53H RefSeq GRCh38/hg38
NM_001014431 chr14:g.104780106T>G c.157A>C p.N53H RefSeq GRCh38/hg38
XM_017021078 chr14:g.104780106T>G c.157A>C p.N53H 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 N53H loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References