PIK3CA c.1646A>G ;(p.D549G)

Variant ID: 3-178936104-A-G

NM_006218.2(PIK3CA):c.1646A>G;(p.D549G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Significance of druggable targets (PD-L1, KRAS, BRAF, PIK3CA, MSI, and HPV) on curatively resected esophageal squamous cell carcinoma.

Diagnostic Pathology
Lee, Hong Kyu HK; Kwon, Mi Jung MJ; Ra, Yong Joon YJ; Lee, Hee Sung HS; Kim, Hyoung Soo HS; Nam, Eun Sook ES; Cho, Seong Jin SJ; Park, Hye-Rim HR; Min, Soo Kee SK; Seo, Jinwon J; Choe, Ji-Young JY; Min, Kyueng-Whan KW; Kang, So Young SY
Publication Date: 2020-10-14

Variant appearance in text: PIK3CA: D549G
PubMed Link: 33054840
Variant Present in the following documents:
  • Main text
  • 13000_2020_Article_1045.pdf
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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PIK3CA: D549G
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
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Phosphoproteomic Analyses of NRAS(G12) and NRAS(Q61) Mutant Melanocytes Reveal Increased CK2α Kinase Levels in NRAS(Q61) Mutant Cells.

The Journal Of Investigative Dermatology
Posch, Christian C; Sanlorenzo, Martina M; Vujic, Igor I; Oses-Prieto, Juan A JA; Cholewa, Brian D BD; Kim, Sarasa T ST; Ma, Jeffrey J; Lai, Kevin K; Zekhtser, Mitchell M; Esteve-Puig, Rosaura R; Green, Gary G; Chand, Shreya S; Burlingame, Alma L AL; Panzer-Grümayer, Renate R; Rappersberger, Klemens K; Ortiz-Urda, Susana S
Publication Date: 2016-10

Variant appearance in text: PI3K: D549G
PubMed Link: 27251789
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combined targeting of MEK and PI3K/mTOR effector pathways is necessary to effectively inhibit NRAS mutant melanoma in vitro and in vivo.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Posch, Christian C; Moslehi, Homayoun H; Feeney, Luzviminda L; Green, Gary A GA; Ebaee, Anoosheh A; Feichtenschlager, Valentin V; Chong, Kim K; Peng, Lily L; Dimon, Michelle T MT; Phillips, Thomas T; Daud, Adil I AI; McCalmont, Timothy H TH; LeBoit, Philip E PE; Ortiz-Urda, Susana S
Publication Date: 2013-03-05

Variant appearance in text: PI3K: D549G
PubMed Link: 23431193
Variant Present in the following documents:
  • Main text
View BVdb publication page