Gene Variant Detail

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Gene PIK3CA
Variant I391M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PIK3CA I391M lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). The functional effect of I391M is conflicting, as it demonstrates kinase activity similar to wild-type Pik3ca (PMID: 20530683), however in another study, results in increased cell proliferation and cell viability as compared to wild-type Pik3ca, in one of two different cell lines (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown.
Associated Drug Resistance

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Transcript NM_006218
gDNA chr3:g.179209622A>G
cDNA c.1173A>G
Protein p.I391M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179209622A>G c.1173A>G p.I391M RefSeq GRCh38/hg38
XM_011512894 chr3:g.179209622A>G c.1173A>G p.I391M RefSeq GRCh38/hg38
NM_006218 chr3:g.179209622A>G c.1173A>G p.I391M 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
PIK3CA I391M unknown
ERBB2 pos PIK3CA I391M
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA I391M uterine cancer predicted - sensitive Sirolimus Case Reports/Case Series Actionable In a clinical case study, a uterine cancer patient harboring PIK3CA I391M demonstrated stable disease when treated with Rapamune (sirolimus) (PMID: 28514312). 28514312
ERBB2 pos PIK3CA I391M Her2-receptor positive breast cancer sensitive Ado-trastuzumab emtansine Preclinical - Cell culture Actionable In a preclinical study, Kadcyla (trastuzumab emtansine) inhibited survival of ERBB2 (HER2) positive breast cancer cells harboring PIK3CA K111N in culture (PMID: 26920887). 26920887