PIK3CA c.2975G>T ;(p.R992L)

Variant ID: 3-178951920-G-T

NM_006218.2(PIK3CA):c.2975G>T;(p.R992L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Disease-related mutations in PI3Kγ disrupt regulatory C-terminal dynamics and reveal a path to selective inhibitors.

Elife
Rathinaswamy, Manoj K MK; Gaieb, Zied Z; Fleming, Kaelin D KD; Borsari, Chiara C; Harris, Noah J NJ; Moeller, Brandon E BE; Wymann, Matthias P MP; Amaro, Rommie E RE; Burke, John E JE
Publication Date: 2021-03-04

Variant appearance in text: PIK3CA: R992L
PubMed Link: 33661099
Variant Present in the following documents:
  • Main text
  • elife-64691.pdf
View BVdb publication page



Disease-related mutations in PI3Kγ disrupt regulatory C-terminal dynamics and reveal a path to selective inhibitors.

Elife
Rathinaswamy, Manoj K MK; Gaieb, Zied Z; Fleming, Kaelin D KD; Borsari, Chiara C; Harris, Noah J NJ; Moeller, Brandon E BE; Wymann, Matthias P MP; Amaro, Rommie E RE; Burke, John E JE
Publication Date: 2021-03-04

Variant appearance in text: PIK3CA: R992L
PubMed Link: 33661099
Variant Present in the following documents:
  • Main text
  • elife-64691.pdf
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: PIK3CA: 2975G>T; Arg992Leu
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page



Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Oncotarget
Wing, Michele R MR; Reeser, Julie W JW; Smith, Amy M AM; Reeder, Matthew M; Martin, Dorrelyn D; Jewell, Benjamin M BM; Datta, Jharna J; Miya, Jharna J; Monk, J Paul JP; Mortazavi, Amir A; Otterson, Gregory A GA; Goldberg, Richard M RM; VanDeusen, Jeffrey B JB; Cole, Sharon S; Dittmar, Kristin K; Jaiswal, Sunny S; Kinzie, Matthew M; Waikhom, Suraj S; Freud, Aharon G AG; Zhou, Xiao-Ping XP; Chen, Wei W; Bhatt, Darshna D; Roychowdhury, Sameek S
Publication Date: 2017-09-29

Variant appearance in text: PIK3CA: 2975G>T; Arg992Leu
PubMed Link: 29100271
Variant Present in the following documents:
  • oncotarget-08-75822-s008.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: PIK3CA: R992L
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget
Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-01-31

Variant appearance in text: PIK3CA: R992L
PubMed Link: 28002797
Variant Present in the following documents:
  • oncotarget-08-7852-s002.xlsx, sheet 19
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: PIK3CA: R992L
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page