To all our CKB CORE users, don’t miss the latest new features now available! Register for a free CORE account here and then login for access. Feel free to contact us at ckbsupport@genomenon.com if you have any questions!

PIK3CA M1043I - Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene PIK3CA
Variant M1043I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA M1043I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043I confers a gain of function on the Pik3ca protein as indicated by in increased phosphorylation of Akt, activation of downstream signaling, and transformation in cell culture (PMID: 17376864, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA M1043I

PIK3CA mutant PIK3CA exon21 PIK3CA M1043I

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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.

Transcript NM_006218.4
gDNA chr3:g.179234286G>C
cDNA c.3129G>C
Protein p.M1043I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658.4 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
NM_006218 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234286G>C c.3129G>C p.M1043I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA M1043I PIK3CA amp bladder urothelial carcinoma predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic urothelial bladder cancer harboring PIK3CA M1043I and PIK3CA amplification (copy number >20), as well as amplification of CCND1 and loss of CDKN2A and CDKN2B, was treated with Afinitor (everolimus) and achieved a complete response including remission of lymph node metastases, and remained progression-free at 6 months (PMID: 33745098). 33745098
BRAF V600E PIK3CA M1043I anaplastic thyroid carcinoma sensitive Dasatinib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Sprycel (dasatinib) and Mekinist (trametinib) inhibited viability of an anaplastic thyroid cancer cell line harboring BRAF V600E and PIK3CA M1043I in culture (PMID: 37713162). 37713162