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 H1047L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA H1047L is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047L 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 H1047L

PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047L

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>T
cDNA c.3140A>T
Protein p.H1047L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658.4 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
NM_006218 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234297A>T c.3140A>T p.H1047L 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 Capivasertib + Fulvestrant + SDX-7320 Alpelisib + Fulvestrant + SDX-7320 Evexomostat Plus PI3K or AKT Inhibitor and Fulvestrant in Women With a PI3K Alteration and HR+/Her2- Breast Cancer (Amelia-1) Recruiting USA 0