PTEN c.722T>C ;(p.F241S)

Variant ID: 10-89717697-T-C

NM_000314.4(PTEN):c.722T>C;(p.F241S)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PTEN: 722T>C; Phe241Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: PTEN: F241S
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
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: F241S
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs121909240
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs121909240
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: PTEN: F241S
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: rs121909240
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



BRAF status modulates Interelukin-8 expression through a CHOP-dependent mechanism in colorectal cancer.

Communications Biology
Conciatori, Fabiana F; Bazzichetto, Chiara C; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Donzelli, Sara S; Diodoro, Maria Grazia MG; Buglioni, Simonetta S; Falcone, Italia I; Shirasawa, Senji S; Blandino, Giovanni G; Ferretti, Gianluigi G; Cognetti, Francesco F; Milella, Michele M; Ciuffreda, Ludovica L
Publication Date: 2020-10-01

Variant appearance in text: PTEN: F241S
PubMed Link: 33004975
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1263.pdf
  • 42003_2020_1263_MOESM1_ESM.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PTEN: 722T>C; Phe241Ser
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications
Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K
Publication Date: 2020-04-29

Variant appearance in text: PTEN: F241S
PubMed Link: 32350270
Variant Present in the following documents:
  • 41467_2020_Article_15943.pdf
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: F241S
PubMed Link: 32190315
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.

The Febs Journal
Wong, Chi Wai CW; Wang, Yubing Y; Liu, Tian T; Li, Lisha L; Cheung, Stanley Kwok Kuen SKK; Or, Penelope Mei-Yu PM; Cheng, Alfred Sze-Lok AS; Choy, Kwong Wai KW; Burbach, Johannes Peter Henri JPH; Feng, Bo B; Chang, Raymond Chuen Chung RCC; Chan, Andrew M AM
Publication Date: 2020-11

Variant appearance in text: PTEN: F241S
PubMed Link: 32150788
Variant Present in the following documents:
  • Main text
  • FEBS-287-4848.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PTEN: F241S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications
Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE
Publication Date: 2020-01-27

Variant appearance in text: PTEN: F241S
PubMed Link: 31988276
Variant Present in the following documents:
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 9
  • 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM11_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
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: 722T>C; F241S
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.

Medical Journal Of The Islamic Republic Of Iran
Zahedi Abghari, Fateme F; Moradi, Yousef Y; Akouchekian, Mansoureh M
Publication Date: 2019

Variant appearance in text: PTEN: F241S
PubMed Link: 31086789
Variant Present in the following documents:
  • Main text
  • mjiri-33-10.pdf
View BVdb publication page



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: PTEN: F241S
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
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: 722T>C; F241S
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Next-generation Sequencing Reveals Recurrent Somatic Mutations in Small Cell Neuroendocrine Carcinoma of the Uterine Cervix.

The American Journal Of Surgical Pathology
Xing, Deyin D; Zheng, Gang G; Schoolmeester, John Kenneth JK; Li, Zaibo Z; Pallavajjala, Aparna A; Haley, Lisa L; Conner, Michael G MG; Vang, Russell R; Hung, Chien-Fu CF; Wu, Tzyy-Choou TC; Ronnett, Brigitte M BM
Publication Date: 2018-06

Variant appearance in text: PTEN: F241S
PubMed Link: 29505425
Variant Present in the following documents:
  • Main text
View BVdb publication page



PTEN/PTENP1: 'Regulating the regulator of RTK-dependent PI3K/Akt signalling', new targets for cancer therapy.

Molecular Cancer
Haddadi, Nahal N; Lin, Yiguang Y; Travis, Glena G; Simpson, Ann M AM; Nassif, Najah T NT; McGowan, Eileen M EM
Publication Date: 2018-02-19

Variant appearance in text: PTEN: F241S
PubMed Link: 29455665
Variant Present in the following documents:
  • Main text
  • 12943_2018_Article_803.pdf
View BVdb publication page



Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.

Biological Psychiatry
Fricano-Kugler, Catherine J CJ; Getz, Stephanie A SA; Williams, Michael R MR; Zurawel, Ashley A AA; DeSpenza, Tyrone T; Frazel, Paul W PW; Li, Meijie M; O'Malley, Alistair J AJ; Moen, Erika L EL; Luikart, Bryan W BW
Publication Date: 2018-08-15

Variant appearance in text: PTEN: F241S
PubMed Link: 29373119
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: PTEN: F241S
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits.

Molecular Autism
He, Xin X; Thacker, Stetson S; Romigh, Todd T; Yu, Qi Q; Frazier, Thomas W TW; Eng, Charis C
Publication Date: 2015

Variant appearance in text: PTEN: F241S
PubMed Link: 26579216
Variant Present in the following documents:
  • Main text
  • 13229_2015_Article_56.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PTEN: F241S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The parvalbumin/somatostatin ratio is increased in Pten mutant mice and by human PTEN ASD alleles.

Cell Reports
Vogt, Daniel D; Cho, Kathleen K A KKA; Lee, Anthony T AT; Sohal, Vikaas S VS; Rubenstein, John L R JLR
Publication Date: 2015-05-12

Variant appearance in text: PTEN: F241S
PubMed Link: 25937288
Variant Present in the following documents:
  • Main text
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: F241S
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics
Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR
Publication Date: 2015-02

Variant appearance in text: PTEN: 722T>C
PubMed Link: 25527629
Variant Present in the following documents:
  • Main text
  • jmedgenet-2014-102803-s1.pdf
  • jmedgenet-2014-102803.pdf
View BVdb publication page



Advanced pharmacotherapy evidenced by pathogenesis of autism spectrum disorder.

Clinical Psychopharmacology And Neuroscience : The Official Scientific Journal Of The Korean College Of Neuropsychopharmacology
Lee, Yeon Jung YJ; Oh, Soo Hyun SH; Park, Chanmin C; Hong, Minha M; Lee, Ah Rah AR; Yoo, Hee Jeong HJ; Shin, Chan Young CY; Cheon, Keun-Ah KA; Bahn, Geon Ho GH
Publication Date: 2014-04

Variant appearance in text: PTEN: F241S
PubMed Link: 24851117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

Frontiers In Molecular Neuroscience
Kreis, Patricia P; Leondaritis, George G; Lieberam, Ivo I; Eickholt, Britta J BJ
Publication Date: 2014

Variant appearance in text: PTEN: F241S
PubMed Link: 24744697
Variant Present in the following documents:
  • Main text
  • fnmol-07-00023.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: F241S
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Animal models of autism spectrum disorders: information for neurotoxicologists.

Neurotoxicology
Halladay, Alycia K AK; Amaral, David D; Aschner, Michael M; Bolivar, Valerie J VJ; Bowman, Aaron A; DiCicco-Bloom, Emanuel E; Hyman, Susan L SL; Keller, Flavio F; Lein, Pamela P; Pessah, Isaac I; Restifo, Linda L; Threadgill, David W DW
Publication Date: 2009-09

Variant appearance in text: PTEN: F241S
PubMed Link: 19596370
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.

Journal Of Medical Genetics
Lintas, C C; Persico, A M AM
Publication Date: 2009-01

Variant appearance in text: PTEN: F241S
PubMed Link: 18728070
Variant Present in the following documents:
  • Main text
  • JMG-46-01-0001.pdf
View BVdb publication page



Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Buxbaum, Joseph D JD; Cai, Guiqing G; Chaste, Pauline P; Nygren, Gudrun G; Goldsmith, Juliet J; Reichert, Jennifer J; Anckarsäter, Henrik H; Rastam, Maria M; Smith, Christopher J CJ; Silverman, Jeremy M JM; Hollander, Eric E; Leboyer, Marion M; Gillberg, Christopher C; Verloes, Alain A; Betancur, Catalina C
Publication Date: 2007-06-05

Variant appearance in text: PTEN: F241S
PubMed Link: 17427195
Variant Present in the following documents:
  • Main text
View BVdb publication page