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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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