LEPR c.-21+6686A>G

Variant ID: 1-65897747-A-G

NM_002303.6(LEPR):c.-21+6686A>G

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1887285
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: LEPR: -21+6686A>G; rs1887285
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: LEPR: -21+6686A>G; rs1887285
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI.

Science Advances
Couto Alves, Alexessander A; De Silva, N Maneka G NMG; Karhunen, Ville V; Sovio, Ulla U; Das, Shikta S; Taal, H Rob HR; Warrington, Nicole M NM; Lewin, Alexandra M AM; Kaakinen, Marika M; Cousminer, Diana L DL; Thiering, Elisabeth E; Timpson, Nicholas J NJ; Bond, Tom A TA; Lowry, Estelle E; Brown, Christopher D CD; Estivill, Xavier X; Lindi, Virpi V; Bradfield, Jonathan P JP; Geller, Frank F; Speed, Doug D; Coin, Lachlan J M LJM; Loh, Marie M; Barton, Sheila J SJ; Beilin, Lawrence J LJ; Bisgaard, Hans H; Bønnelykke, Klaus K; Alili, Rohia R; Hatoum, Ida J IJ; Schramm, Katharina K; Cartwright, Rufus R; Charles, Marie-Aline MA; Salerno, Vincenzo V; Clément, Karine K; Claringbould, Annique A J AAJ; , ; van Duijn, Cornelia M CM; Moltchanova, Elena E; Eriksson, Johan G JG; Elks, Cathy C; Feenstra, Bjarke B; Flexeder, Claudia C; Franks, Stephen S; Frayling, Timothy M TM; Freathy, Rachel M RM; Elliott, Paul P; Widén, Elisabeth E; Hakonarson, Hakon H; Hattersley, Andrew T AT; Rodriguez, Alina A; Banterle, Marco M; Heinrich, Joachim J; Heude, Barbara B; Holloway, John W JW; Hofman, Albert A; Hyppönen, Elina E; Inskip, Hazel H; Kaplan, Lee M LM; Hedman, Asa K AK; Läärä, Esa E; Prokisch, Holger H; Grallert, Harald H; Lakka, Timo A TA; Lawlor, Debbie A DA; Melbye, Mads M; Ahluwalia, Tarunveer S TS; Marinelli, Marcella M; Millwood, Iona Y IY; Palmer, Lyle J LJ; Pennell, Craig E CE; Perry, John R JR; Ring, Susan M SM; Savolainen, Markku J MJ; Rivadeneira, Fernando F; Standl, Marie M; Sunyer, Jordi J; Tiesler, Carla M T CMT; Uitterlinden, Andre G AG; Schierding, William W; O'Sullivan, Justin M JM; Prokopenko, Inga I; Herzig, Karl-Heinz KH; Smith, George Davey GD; O'Reilly, Paul P; Felix, Janine F JF; Buxton, Jessica L JL; Blakemore, Alexandra I F AIF; Ong, Ken K KK; Jaddoe, Vincent W V VWV; Grant, Struan F A SFA; Sebert, Sylvain S; McCarthy, Mark I MI; Järvelin, Marjo-Riitta MR; ,
Publication Date: 2019-09

Variant appearance in text: rs1887285
PubMed Link: 31840077
Variant Present in the following documents:
  • Main text
  • aaw3095.pdf
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs1887285
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Pancreatic Cancer Risk Associated with Prediagnostic Plasma Levels of Leptin and Leptin Receptor Genetic Polymorphisms.

Cancer Research
Babic, Ana A; Bao, Ying Y; Qian, Zhi Rong ZR; Yuan, Chen C; Giovannucci, Edward L EL; Aschard, Hugues H; Kraft, Peter P; Amundadottir, Laufey T LT; Stolzenberg-Solomon, Rachael R; Morales-Oyarvide, Vicente V; Ng, Kimmie K; Stampfer, Meir J MJ; Ogino, Shuji S; Buring, Julie E JE; Sesso, Howard D HD; Gaziano, John Michael JM; Rifai, Nader N; Pollak, Michael N MN; Anderson, Matthew L ML; Cochrane, Barbara B BB; Luo, Juhua J; Manson, JoAnn E JE; Fuchs, Charles S CS; Wolpin, Brian M BM
Publication Date: 2016-12-15

Variant appearance in text: rs1887285
PubMed Link: 27780823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms in leptin, adiponectin and their receptors affect risk and aggressiveness of prostate cancer: evidence from a meta-analysis and pooled-review.

Oncotarget
Hu, Meng-Bo MB; Xu, Hua H; Hu, Ji-Meng JM; Zhu, Wen-Hui WH; Yang, Tian T; Jiang, Hao-Wen HW; Ding, Qiang Q
Publication Date: 2016-12-06

Variant appearance in text: rs1887285
PubMed Link: 27768592
Variant Present in the following documents:
  • Main text
  • oncotarget-07-81049.pdf
View BVdb publication page



Leptin and leptin receptor genes in relation to premenopausal breast cancer incidence and grade in Caucasian women.

Breast Cancer Research And Treatment
Gu, Fangyi F; Kraft, Peter P; Rice, Megan M; Michels, Karin B KB
Publication Date: 2012-01

Variant appearance in text: rs1887285
PubMed Link: 21947707
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms in the hypothalamic pathway in relation to subsequent weight change--the DiOGenes study.

Plos One
Du, Huaidong H; Vimaleswaran, Karani S KS; Angquist, Lars L; Hansen, Rikke D RD; van der A, Daphne L DL; Holst, Claus C; Tjønneland, Anne A; Overvad, Kim K; Jakobsen, Marianne Uhre MU; Boeing, Heiner H; Meidtner, Karina K; Palli, Domenico D; Masala, Giovanna G; Bouatia-Naji, Nabila N; Saris, Wim H M WH; Feskens, Edith J M EJ; Wareham, Nicolas J NJ; Sørensen, Thorkild I A TI; Loos, Ruth J F RJ
Publication Date: 2011-02-24

Variant appearance in text: rs1887285
PubMed Link: 21390334
Variant Present in the following documents:
  • Main text
  • pone.0017436.pdf
View BVdb publication page



Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array.

Plos One
Sõber, Siim S; Org, Elin E; Kepp, Katrin K; Juhanson, Peeter P; Eyheramendy, Susana S; Gieger, Christian C; Lichtner, Peter P; Klopp, Norman N; Veldre, Gudrun G; Viigimaa, Margus M; Döring, Angela A; , ; Putku, Margus M; Kelgo, Piret P; , ; Shaw-Hawkins, Sue S; Howard, Philip P; Onipinla, Abiodun A; Dobson, Richard J RJ; Newhouse, Stephen J SJ; Brown, Morris M; Dominiczak, Anna A; Connell, John J; Samani, Nilesh N; Farrall, Martin M; , ; Caulfield, Mark J MJ; Munroe, Patricia B PB; Illig, Thomas T; Wichmann, H-Erich HE; Meitinger, Thomas T; Laan, Maris M
Publication Date: 2009-06-29

Variant appearance in text: rs1887285
PubMed Link: 19562039
Variant Present in the following documents:
  • Main text
  • pone.0006034.pdf
View BVdb publication page