PTEN c.16A>G ;(p.K6E)

Variant ID: 10-89624242-A-G

NM_000314.4(PTEN):c.16A>G;(p.K6E)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Cancer Research And Treatment
Hong, Jung Yong JY; Cho, Hee Jin HJ; Yun, Kum-Hee KH; Lee, Young Han YH; Kim, Seung Hyun SH; Baek, Wooyeol W; Kim, Sang Kyum SK; Lee, Yurimi Y; Choi, Yoon-La YL; Kwon, Minsuk M; Kim, Hyo Song HS; Lee, Jeeyun J
Publication Date: 2022-09-27

Variant appearance in text: PTEN: K6E
PubMed Link: 36164943
Variant Present in the following documents:
  • crt-2022-251-Supplementary-Table-2.xlsx, sheet 1
View BVdb publication page



Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology
Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T
Publication Date: 2022-07-14

Variant appearance in text: MMAC1: K6E
PubMed Link: 35836176
Variant Present in the following documents:
  • 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Frontiers In Oncology
Yao, Qianlan Q; Liu, Yanhui Y; Zhang, Lihua L; Dong, Lin L; Bao, Longlong L; Bai, Qianming Q; Cui, Qian Q; Xu, Jie J; Li, Min M; Liu, Jing J; Chuai, Shannon S; Ying, Jianming J; Zhang, Zhihong Z; Zhou, Xiaoyan X
Publication Date: 2022

Variant appearance in text: PTEN: 16A>G; Lys6Glu
PubMed Link: 35186721
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 3
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: K6E
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Neuro-Oncology Advances
Cantero, Diana D; Mollejo, Manuela M; Sepúlveda, Juan M JM; D'Haene, Nicky N; Gutiérrez-Guamán, Myriam J MJ; Rodríguez de Lope, Ángel Á; Fiaño, Concepción C; Castresana, Javier S JS; Lebrun, Laetitia L; Rey, Juan A JA; Salmon, Isabelle I; Meléndez, Bárbara B; Hernández-Laín, Aurelio A
Publication Date: 2020

Variant appearance in text: PTEN: 16A>G; Lys6Glu
PubMed Link: 32642724
Variant Present in the following documents:
  • vdz059_suppl_suplementary_table_2.xlsx, sheet 1
View BVdb publication page



Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Molecular And Clinical Oncology
Yotsumoto, Yuka Y; Harada, Atsuko A; Tsugawa, Jiro J; Ikura, Yoshihiro Y; Utsunomiya, Hidetsuna H; Miyatake, Satoko S; Matsumoto, Naomichi N; Kanemura, Yonehiro Y; Hashimoto-Tamaoki, Tomoko T
Publication Date: 2020-04

Variant appearance in text: PTEN: K6E
PubMed Link: 32190315
Variant Present in the following documents:
  • Main text
  • mco-12-04-0329.pdf
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: PTEN: 16A>G; K6E
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget
Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD
Publication Date: 2018-05-22

Variant appearance in text: PTEN: 16A>G
PubMed Link: 29876005
Variant Present in the following documents:
  • oncotarget-09-25517-s001.pdf
View BVdb publication page



Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine
Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM
Publication Date: 2016-05-04

Variant appearance in text: PTEN: Lys6Glu
PubMed Link: 27146902
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_878.pdf
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: K6E
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

American Journal Of Medical Genetics. Part A
Vanderver, Adeline A; Tonduti, Davide D; Kahn, Ilana I; Schmidt, Johanna J; Medne, Livija L; Vento, Jodie J; Chapman, Kimberly A KA; Lanpher, Brendan B; Pearl, Phillip P; Gropman, Andrea A; Lourenco, Charles C; Bamforth, John-Steven JS; Sharpe, Cynthia C; Pineda, Mercédes M; Schallner, Jens J; Bodamer, Olaf O; Orcesi, Simona S; Oberstein, Saskia A J Lesnik SA; Sistermans, Erik A EA; Yntema, Helger G HG; Bonnemann, Carsten C; Waldman, Amy T AT; van der Knaap, Marjo S MS
Publication Date: 2014-03

Variant appearance in text: PTEN: 16A>G; Lys6Glu
PubMed Link: 24375884
Variant Present in the following documents:
  • Main text
View BVdb publication page