PTEN c.113C>A ;(p.P38H)

Variant ID: 10-89653815-C-A

NM_000314.4(PTEN):c.113C>A;(p.P38H)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications
Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH
Publication Date: 2022-05-04

Variant appearance in text: PTEN: 113C>A; P38H
PubMed Link: 35508466
Variant Present in the following documents:
  • 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology
Lee, Boram B; Lee, Hyunwoo H; Cho, Junhun J; Yoon, Sang Eun SE; Kim, Seok Jin SJ; Park, Woong-Yang WY; Kim, Won Seog WS; Ko, Young Hyeh YH
Publication Date: 2021

Variant appearance in text: PTEN: P38H
PubMed Link: 33777778
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: PTEN: 113C>A; P38H
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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: P38H
PubMed Link: 32350270
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15943.pdf
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: PTEN: 113C>A
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Keppler-Noreuil, Kim M KM; Parker, Victoria E R VE; Darling, Thomas N TN; Martinez-Agosto, Julian A JA
Publication Date: 2016-12

Variant appearance in text: PTEN: Pro38His
PubMed Link: 27860216
Variant Present in the following documents:
  • Main text
View BVdb publication page



One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections.

Plos One
Mingo, Janire J; Erramuzpe, Asier A; Luna, Sandra S; Aurtenetxe, Olaia O; Amo, Laura L; Diez, Ibai I; Schepens, Jan T G JT; Hendriks, Wiljan J A J WJ; Cortés, Jesús M JM; Pulido, Rafael R
Publication Date: 2016

Variant appearance in text: PTEN: P38H
PubMed Link: 27548698
Variant Present in the following documents:
  • Main text
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: 113C>A; P38H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: 113C>A
PubMed Link: 25527629
Variant Present in the following documents:
  • jmedgenet-2014-102803-s1.pdf
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: P38H
PubMed Link: 24744697
Variant Present in the following documents:
  • Main text
  • fnmol-07-00023.pdf
View BVdb publication page



Macrocephaly as a clinical indicator of genetic subtypes in autism.

Autism Research : Official Journal Of The International Society For Autism Research
Klein, Steven S; Sharifi-Hannauer, Pantea P; Martinez-Agosto, Julian A JA
Publication Date: 2013-02

Variant appearance in text: PTEN: P38H
PubMed Link: 23361946
Variant Present in the following documents:
  • Main text
View BVdb publication page