← Lymphatic Malformation Variant Atlas

PIK3R1 E462_R465del

c.1384_1395del NM_181523.3 PI3K-AKT indel, gain of function

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

Position in PIK3R1 1 catalogued

1482 aaE462_R465del

Reported in LM

ISSVA subsetAllele fractionSources
LM n.r.
PMID41574430

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).