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@jax.org

Gene PIK3CA
Variant H1047R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA H1047R is a hotspot mutation that lies within the kinase domain of the Pik3ca protein (UniProt.org). H1047R results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transformation in cell culture (PMID: 26627007, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA H1047R

PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047R

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.179234297A>G
cDNA c.3140A>G
Protein p.H1047R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658.4 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
NM_006218 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234297A>G c.3140A>G p.H1047R 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT05455619 Phase Ib/II Alpelisib + Fulvestrant + SDX-7320 Evexomostat Plus Alpelisib and Fulvestrant in Women With the PIK3CA Mutation With HR+/Her2- Breast Cancer (Amelia-1) Recruiting USA 0
NCT05307705 Phase I Abemaciclib + Anastrozole + LOXO-783 Abemaciclib + Exemestane + LOXO-783 Abemaciclib + Letrozole + LOXO-783 LOXO-783 + Paclitaxel Fulvestrant + LOXO-783 LOXO-783 + LY3484356 Abemaciclib + Fulvestrant + LOXO-783 Abemaciclib + LOXO-783 + LY3484356 Letrozole + LOXO-783 LOXO-783 Anastrozole + LOXO-783 Exemestane + LOXO-783 A Study of LOXO-783 in Patients With Breast Cancer/Other Solid Tumors (PIKASSO-01) Recruiting USA | ITA | GBR | FRA | ESP | DEU | CAN | BEL | AUS 4
NCT03941782 Phase 0 Alpelisib Compassionate Use of BYL 719 Alpelisib No longer available USA 0
NCT06239467 Phase I OKI-219 + Trastuzumab OKI-219 Fulvestrant + OKI-219 First-in-Human Study of OKI-219 in Advanced Solid Tumors and Advanced Breast Cancer (PIKture-01) Recruiting USA | ESP 0