← Lymphatic Malformation Variant Atlas

PIK3CA P447_L455del

c.1338_1364del NM_006218.3 PI3K-AKT indel, gain of function

Live annotations for this variant will appear after the next enrichment run.

Position in PIK3CA 15 catalogued

PI3K-ABD (16–105)PI3K-ABDPI3K-RBD (187–289)PI3K-RBDC2 PI3K-type (330–487)C2 PI3K-typePIK helical (517–694)PIK helicalPI3K/PI4K catalytic (765–1051)PI3K/PI4K ca…11068 aaR88QE109delE110delN345KC420RP447_L455delE542KE545AE545GE545KQ546KQ546RM1043IH1047LH1047R

Same region C420R, N345K

Reported in LM

ISSVA subsetAllele fractionSources
LM 2.9%
PMID37264205

Bars show the reported allele-fraction range on a 0 to 50 percent axis.

Pathway and targeted therapy

Driver of the PI3K-AKT pathway. Repurposed drugs already used in the clinic for this pathway: alpelisib (PI3Kα inhibitor), sirolimus (mTOR inhibitor).