PTEN c.386G>T ;(p.G129V)

Variant ID: 10-89692902-G-T

NM_000314.4(PTEN):c.386G>T;(p.G129V)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: PTEN: 386G>T; G129V
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
  • Table_2.xlsx, sheet 2
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: PTEN: G129V
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: PTEN: 386G>T; G129V
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The mutational landscape of cancer's vulnerability to ionizing radiation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Gopal, Priyanka P; Yard, Brian D BD; Petty, Aaron A; Lal, Jessica C JC; Bera, Titas K TK; Hoang, Trung Q TQ; Buhimschi, Alexandru B AB; Abazeed, Mohamed E ME
Publication Date: 2022-10-12

Variant appearance in text: PTEN: G129V
PubMed Link: 36222846
Variant Present in the following documents:
  • ccr-22-1914_supplementary_data_2_suppds2.xlsx, sheet 1
  • ccr-22-1914_supplementary_data_3_suppds3.xlsx, sheet 1
View BVdb publication page



Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.

Npj Genomic Medicine
Yehia, Lamis L; Ni, Ying Y; Sadler, Tammy T; Frazier, Thomas W TW; Eng, Charis C
Publication Date: 2022-03-03

Variant appearance in text: PTEN: Gly129Val
PubMed Link: 35241692
Variant Present in the following documents:
  • 41525_2022_289_MOESM1_ESM.pdf
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: PTEN: G129V
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 31
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: PTEN: G129V
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: PTEN: G129V
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
  • Table_6.xlsx, sheet 7
  • Table_6.xlsx, sheet 2
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: PTEN: G129V
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics
Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A
Publication Date: 2020-07-11

Variant appearance in text: PTEN: 386G>T; Gly129Val
PubMed Link: 32652986
Variant Present in the following documents:
  • 12920_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PTEN: G129V
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: PTEN: 386G>T; G129V
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: G129V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy.

Nmc Case Report Journal
Takei, Jun J; Tochigi, Satoru S; Arai, Masami M; Tanaka, Toshihide T; Kajiwara, Ikki I; Hatano, Keisuke K; Ichinose, Daisuke D; Sakamoto, Hiroki H; Hasegawa, Yuzuru Y; Ishibashi, Toshihiro T; Tani, Satoshi S; Murayama, Yuichi Y
Publication Date: 2018-10

Variant appearance in text: PTEN: G129V
PubMed Link: 30327747
Variant Present in the following documents:
  • Main text
  • nmccrj-5-83.pdf
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: PTEN: G129V
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: PTEN: 386G>T; G129V
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Racial Disparities in the Molecular Landscape of Cancer.

Anticancer Research
Heath, Elisabeth I EI; Lynce, Filipa F; Xiu, Joanne J; Ellerbrock, Angela A; Reddy, Sandeep K SK; Obeid, Elias E; Liu, Stephen V SV; Bollig-Fischer, Aliccia A; Separovic, Duska D; Vanderwalde, Ari A
Publication Date: 2018-04

Variant appearance in text: PTEN: G129V
PubMed Link: 29599344
Variant Present in the following documents:
  • Main text
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: PTEN: 386G>T; G129V
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PTEN: 386G>T; G129V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles.

Cancer Discovery
Kim, Eejung E; Ilic, Nina N; Shrestha, Yashaswi Y; Zou, Lihua L; Kamburov, Atanas A; Zhu, Cong C; Yang, Xiaoping X; Lubonja, Rakela R; Tran, Nancy N; Nguyen, Cindy C; Lawrence, Michael S MS; Piccioni, Federica F; Bagul, Mukta M; Doench, John G JG; Chouinard, Candace R CR; Wu, Xiaoyun X; Hogstrom, Larson L; Natoli, Ted T; Tamayo, Pablo P; Horn, Heiko H; Corsello, Steven M SM; Lage, Kasper K; Root, David E DE; Subramanian, Aravind A; Golub, Todd R TR; Getz, Gad G; Boehm, Jesse S JS; Hahn, William C WC
Publication Date: 2016-07

Variant appearance in text: PTEN: G129V
PubMed Link: 27147599
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential Requirement for Pten Lipid and Protein Phosphatase Activity during Zebrafish Embryonic Development.

Plos One
Stumpf, Miriam M; den Hertog, Jeroen J
Publication Date: 2016

Variant appearance in text: PTEN: G129V
PubMed Link: 26848951
Variant Present in the following documents:
  • Main text
  • pone.0148508.pdf
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: PTEN: G129V
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PTEN: G129V
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-7.xlsx, sheet 1
View BVdb publication page



Annotating cancer variants and anti-cancer therapeutics in reactome.

Cancers
Milacic, Marija M; Haw, Robin R; Rothfels, Karen K; Wu, Guanming G; Croft, David D; Hermjakob, Henning H; D'Eustachio, Peter P; Stein, Lincoln L
Publication Date: 2012-11-08

Variant appearance in text: PTEN: G129V
PubMed Link: 24213504
Variant Present in the following documents:
  • Main text
  • cancers-04-01180.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: G129V
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page