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 P104L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA P104L lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). P104L results in increased cell proliferation and migration and increased Akt phosphorylation compared to wild-type Pik3ca in culture (PMID: 34779417) and increased transformation ability in several different cell lines in culture (PMID: 29533785, PMID: 34779417).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA P104L

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.179199136C>T
cDNA c.311C>T
Protein p.P104L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179199136C>T c.311C>T p.P104L RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179199136C>T c.311C>T p.P104L RefSeq GRCh38/hg38
XM_006713658 chr3:g.179199136C>T c.311C>T p.P104L RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179199136C>T c.311C>T p.P104L RefSeq GRCh38/hg38
XM_011512894 chr3:g.179199136C>T c.311C>T p.P104L RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179199136C>T c.311C>T p.P104L RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179199136C>T c.311C>T p.P104L RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179199136C>T c.311C>T p.P104L 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