PIK3CA c.3145_3146delinsAA ;(p.G1049N)

Variant ID: 3-178952090-GG-AA

NM_006218.2(PIK3CA):c.3145_3146delinsAA;(p.G1049N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Cell Populations Expressing Stemness-Associated Markers in Vascular Anomalies.

Frontiers In Surgery
Kilmister, Ethan J EJ; Hansen, Lauren L; Davis, Paul F PF; Hall, Sean R R SRR; Tan, Swee T ST
Publication Date: 2020

Variant appearance in text: PI3K: G1049N
PubMed Link: 33634164
Variant Present in the following documents:
  • Main text
  • fsurg-07-610758.pdf
View BVdb publication page



The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

International Journal Of Molecular Sciences
Nguyen, Vi V; Hochman, Marcelo M; Mihm, Martin C MC; Nelson, J Stuart JS; Tan, Wenbin W
Publication Date: 2019-05-07

Variant appearance in text: PIK3CA: G1049N
PubMed Link: 31067686
Variant Present in the following documents:
  • Main text
  • ijms-20-02243.pdf
View BVdb publication page



Activation of PKCĪ± and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions.

The American Journal Of Dermatopathology
Yin, Rong R; Gao, Lin L; Tan, Wenbin W; Guo, Wei W; Zhao, Tao T; Nelson, Jhon Stuart JS; Wang, Gang G
Publication Date: 2017-10

Variant appearance in text: PI3K: G1049N
PubMed Link: 28030367
Variant Present in the following documents:
  • Main text
  • ajd-39-747.pdf
View BVdb publication page