PTEN c.335T>A ;(p.L112Q)

Variant ID: 10-89692851-T-A

NM_000314.4(PTEN):c.335T>A;(p.L112Q)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: PTEN: 335T>A; L112*
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Diverse 'just-right' levels of chromosomal instability and their clinical implications in neoadjuvant treated gastric cancer.

British Journal Of Cancer
Kohlruss, Meike M; Krenauer, Marie M; Grosser, Bianca B; Pfarr, Nicole N; Jesinghaus, Moritz M; Slotta-Huspenina, Julia J; Novotny, Alexander A; Hapfelmeier, Alexander A; Schmidt, Thomas T; Steiger, Katja K; Gaida, Matthias M MM; Reiche, Magdalena M; Bauer, Lukas L; Ott, Katja K; Weichert, Wilko W; Keller, Gisela G
Publication Date: 2021-12

Variant appearance in text: PTEN: 335T>A; L112Q
PubMed Link: 34671125
Variant Present in the following documents:
  • 41416_2021_1587_MOESM1_ESM.pdf
View BVdb publication page



Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research
Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV
Publication Date: 2021-01

Variant appearance in text: PTEN: L112Q
PubMed Link: 32767816
Variant Present in the following documents:
  • PCMR-34-122-s006.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: L112Q
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: PTEN: Leu112Gln
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications
Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J
Publication Date: 2019-06-17

Variant appearance in text: PTEN: L112Q
PubMed Link: 31209238
Variant Present in the following documents:
  • 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Strong FGFR3 staining is a marker for FGFR3 fusions in diffuse gliomas.

Neuro-Oncology
Granberg, Kirsi J KJ; Annala, Matti M; Lehtinen, Birgitta B; Kesseli, Juha J; Haapasalo, Joonas J; Ruusuvuori, Pekka P; Yli-Harja, Olli O; Visakorpi, Tapio T; Haapasalo, Hannu H; Nykter, Matti M; Zhang, Wei W
Publication Date: 2017-09-01

Variant appearance in text: PTEN: L112Q
PubMed Link: 28379477
Variant Present in the following documents:
  • nox028_suppl_Supplementary_Table_5.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: 335T>A; L112Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours.

Scientific Reports
Wong, Stephen Q SQ; Li, Jason J; Salemi, Renato R; Sheppard, Karen E KE; Do, Hongdo H; Tothill, Richard W RW; McArthur, Grant A GA; Dobrovic, Alexander A
Publication Date: 2013-12-13

Variant appearance in text: PTEN: L112Q
PubMed Link: 24336498
Variant Present in the following documents:
  • Main text
  • srep03494.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: L112Q
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page