KDR c.92T>C ;(p.L31P)

Variant ID: 4-55987333-A-G

NM_002253.2(KDR):c.92T>C;(p.L31P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KDR: L31P; rs375465295
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Škorić-Milosavljević, Doris D; Lahrouchi, Najim N; Bosada, Fernanda M FM; Dombrowsky, Gregor G; Williams, Simon G SG; Lesurf, Robert R; Tjong, Fleur V Y FVY; Walsh, Roddy R; El Bouchikhi, Ihssane I; Breckpot, Jeroen J; Audain, Enrique E; Ilgun, Aho A; Beekman, Leander L; Ratbi, Ilham I; Strong, Alanna A; Muenke, Maximilian M; Heide, Solveig S; Muir, Alison M AM; Hababa, Mariam M; Cross, Laura L; Zhou, Dihong D; Pastinen, Tomi T; , ; Zackai, Elaine E; Atmani, Samir S; Ouldim, Karim K; Adadi, Najlae N; Steindl, Katharina K; Rauch, Anita A; Brook, David D; Wilsdon, Anna A; Kuipers, Irene I; Blom, Nico A NA; Mulder, Barbara J BJ; Mefford, Heather C HC; Keren, Boris B; Joset, Pascal P; Kruszka, Paul P; Thiffault, Isabelle I; Sheppard, Sarah E SE; Roberts, Amy A; Lodder, Elisabeth M EM; Keavney, Bernard D BD; Clur, Sally-Ann B SB; Mital, Seema S; Hitz, Marc-Philip MP; Christoffels, Vincent M VM; Postma, Alex V AV; Bezzina, Connie R CR
Publication Date: 2021-10

Variant appearance in text: KDR: 92T>C; Leu31Pro
PubMed Link: 34113005
Variant Present in the following documents:
  • 41436_2021_1212_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: KDR: 92T>C; L31P
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomics, Morphoproteomics, and Treatment Patterns of Patients with Alveolar Soft Part Sarcoma and Response to Multiple Experimental Therapies.

Molecular Cancer Therapeutics
Groisberg, Roman R; Roszik, Jason J; Conley, Anthony P AP; Lazar, Alexander J AJ; Portal, Daniella E DE; Hong, David S DS; Naing, Aung A; Herzog, Cynthia E CE; Somaiah, Neeta N; Zarzour, Maria A MA; Patel, Shreyaskumar S; Brown, Robert E RE; Subbiah, Vivek V
Publication Date: 2020-05

Variant appearance in text: KDR: L31P
PubMed Link: 32127467
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phase Ib study evaluating safety and clinical activity of the anti-HER3 antibody lumretuzumab combined with the anti-HER2 antibody pertuzumab and paclitaxel in HER3-positive, HER2-low metastatic breast cancer.

Investigational New Drugs
Schneeweiss, Andreas A; Park-Simon, Tjoung-Won TW; Albanell, Joan J; Lassen, Ulrik U; Cortés, Javier J; Dieras, Veronique V; May, Marcus M; Schindler, Christoph C; Marmé, Frederik F; Cejalvo, Juan Miguel JM; Martinez-Garcia, Maria M; Gonzalez, Iria I; Lopez-Martin, Jose J; Welt, Anja A; Levy, Christelle C; Joly, Florence F; Michielin, Francesca F; Jacob, Wolfgang W; Adessi, Céline C; Moisan, Annie A; Meneses-Lorente, Georgina G; Racek, Tomas T; James, Ian I; Ceppi, Maurizio M; Hasmann, Max M; Weisser, Martin M; Cervantes, Andrés A
Publication Date: 2018-10

Variant appearance in text: KDR: L31P
PubMed Link: 29349598
Variant Present in the following documents:
  • 10637_2018_562_MOESM2_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: KDR: 92T>C; L31P
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page