KCNQ1 c.1794+25533G>T

Variant ID: 11-2824800-G-T

NM_000218.2(KCNQ1):c.1794+25533G>T

This variant was identified in 22 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: rs2074196
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis.

Cancers
Sánchez-Maldonado, José Manuel JM; Collado, Ricardo R; Cabrera-Serrano, Antonio José AJ; Ter Horst, Rob R; Gálvez-Montosa, Fernando F; Robles-Fernández, Inmaculada I; Arenas-Rodríguez, Verónica V; Cano-Gutiérrez, Blanca B; Bakker, Olivier O; Bravo-Fernández, María Inmaculada MI; García-Verdejo, Francisco José FJ; López, José Antonio López JAL; Olivares-Ruiz, Jesús J; López-Nevot, Miguel Ángel MÁ; Fernández-Puerta, Laura L; Cózar-Olmo, José Manuel JM; Li, Yang Y; Netea, Mihai G MG; Jurado, Manuel M; Lorente, Jose Antonio JA; Sánchez-Rovira, Pedro P; Álvarez-Cubero, María Jesús MJ; Sainz, Juan J
Publication Date: 2022-05-12

Variant appearance in text: rs2074196
PubMed Link: 35625981
Variant Present in the following documents:
  • cancers-14-02376.pdf
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Genomics and Epigenomics of Gestational Diabetes Mellitus: Understanding the Molecular Pathways of the Disease Pathogenesis.

International Journal Of Molecular Sciences
Abu Samra, Nadia N; Jelinek, Herbert F HF; Alsafar, Habiba H; Asghar, Farah F; Seoud, Muhieddine M; Hussein, Shahad M SM; Mubarak, Hisham M HM; Anwar, Siddiq S; Memon, Mashal M; Afify, Nariman N; Manzoor, Ridda R; Al-Homedi, Zahrah Z; Osman, Wael W
Publication Date: 2022-03-23

Variant appearance in text: rs2074196
PubMed Link: 35408874
Variant Present in the following documents:
  • ijms-23-03514.pdf
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Celebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels Kv 7.1 and Kv 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes.

Acta Physiologica (Oxford, England)
Lubberding, Anniek F AF; Juhl, Christian R CR; Skovhøj, Emil Z EZ; Kanters, Jørgen K JK; Mandrup-Poulsen, Thomas T; Torekov, Signe S SS
Publication Date: 2022-03

Variant appearance in text: rs2074196
PubMed Link: 34990074
Variant Present in the following documents:
  • Main text
  • APHA-234-e13781.pdf
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Association of Genetic Variants of KCNJ11 and KCNQ1 Genes with Risk of Type 2 Diabetes Mellitus (T2DM) in the Indian Population: A Case-Control Study.

International Journal Of Endocrinology
Khan, Vasiuddin V; Verma, Amit Kumar AK; Bhatt, Deepti D; Khan, Shahbaz S; Hasan, Rameez R; Goyal, Yamini Y; Ramachandran, Sowmya S; Alsahli, Mohammed A MA; Rahmani, Arshad Husain AH; Almatroudi, Ahmad A; Shareef, M Y MY; Meena, Babita B; Dev, Kapil K
Publication Date: 2020

Variant appearance in text: rs2074196
PubMed Link: 33101408
Variant Present in the following documents:
  • Main text
  • IJE2020-5924756.pdf
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Associations of KCNQ1 Polymorphisms with the Risk of Type 2 Diabetes Mellitus: An Updated Meta-Analysis with Trial Sequential Analysis.

Journal Of Diabetes Research
Yu, Xiao-Xuan XX; Liao, Min-Qi MQ; Zeng, Yu-Fei YF; Gao, Xu-Ping XP; Liu, Yan-Hua YH; Sun, Wei W; Zhu, Sui S; Zeng, Fang-Fang FF; Ye, Yan-Bin YB
Publication Date: 2020

Variant appearance in text: rs2074196
PubMed Link: 32695830
Variant Present in the following documents:
  • Main text
  • JDR2020-7145139.pdf
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Genetic Susceptibility to Gestational Diabetes Mellitus in a Chinese Population.

Frontiers In Endocrinology
Cao, Minkai M; Zhang, Le L; Chen, Ting T; Shi, Aiwu A; Xie, Kaipeng K; Li, Zhengying Z; Xu, Jianjuan J; Chen, Zhong Z; Ji, Chenbo C; Wen, Juan J
Publication Date: 2020

Variant appearance in text: rs2074196
PubMed Link: 32390949
Variant Present in the following documents:
  • Main text
  • fendo-11-00247.pdf
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Type 2 Diabetes-Associated Genetic Polymorphisms as Potential Disease Predictors.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Witka, Beska Z BZ; Oktaviani, Dede J DJ; Marcellino, Marcellino M; Barliana, Melisa I MI; Abdulah, Rizky R
Publication Date: 2019

Variant appearance in text: rs2074196
PubMed Link: 31908510
Variant Present in the following documents:
  • Main text
  • dmso-12-2689.pdf
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A type 2 diabetes-associated SNP in KCNQ1 (rs163184) modulates the binding activity of the locus for Sp3 and Lsd1/Kdm1a, potentially affecting CDKN1C expression.

International Journal Of Molecular Medicine
Hiramoto, Masaki M; Udagawa, Haruhide H; Ishibashi, Naoko N; Takahashi, Eri E; Kaburagi, Yasushi Y; Miyazawa, Keisuke K; Funahashi, Nobuaki N; Nammo, Takao T; Yasuda, Kazuki K
Publication Date: 2018-02

Variant appearance in text: rs2074196
PubMed Link: 29207083
Variant Present in the following documents:
  • Main text
  • ijmm-41-02-0717.pdf
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KCNQ1 rs2237895 polymorphism is associated with Gestational Diabetes in Pakistani Women.

Pakistan Journal Of Medical Sciences
Fatima, Syeda Sadia SS; Chaudhry, Bushra B; Khan, Taseer Ahmed TA; Farooq, Saad S
Publication Date: 2016

Variant appearance in text: rs2074196
PubMed Link: 28083030
Variant Present in the following documents:
  • Main text
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Prevention of type 2 diabetes mellitus in women with previous gestational diabetes mellitus.

The Korean Journal Of Internal Medicine
Moon, Joon Ho JH; Kwak, Soo Heon SH; Jang, Hak C HC
Publication Date: 2017-01

Variant appearance in text: rs2074196
PubMed Link: 28049284
Variant Present in the following documents:
  • kjim-2016-203.pdf
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A common variant within the HNF1B gene is associated with overall survival of multiple myeloma patients: results from the IMMEnSE consortium and meta-analysis.

Oncotarget
Ríos-Tamayo, Rafael R; Lupiañez, Carmen Belén CB; Campa, Daniele D; Hielscher, Thomas T; Weinhold, Niels N; Martínez-López, Joaquin J; Jerez, Andrés A; Landi, Stefano S; Jamroziak, Krzysztof K; Dumontet, Charles C; Wątek, Marzena M; Lesueur, Fabienne F; Reis, Rui Manuel RM; Marques, Herlander H; Jurczyszyn, Artur A; Vogel, Ulla U; Buda, Gabriele G; García-Sanz, Ramón R; Orciuolo, Enrico E; Petrini, Mario M; Vangsted, Annette J AJ; Gemignani, Federica F; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; Canzian, Federico F; Jurado, Manuel M; Sainz, Juan J
Publication Date: 2016-09-13

Variant appearance in text: rs2074196
PubMed Link: 27437873
Variant Present in the following documents:
  • Main text
  • oncotarget-07-59029.pdf
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Variant rs2237892 of KCNQ1 Is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in A Chinese Han Population.

Genomics, Proteomics & Bioinformatics
Zhang, Wanlin W; Wang, Hailing H; Guan, Xiaomin X; Niu, Qing Q; Li, Wei W
Publication Date: 2015-12

Variant appearance in text: rs2074196
PubMed Link: 26678516
Variant Present in the following documents:
  • Main text
  • main.pdf
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Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population.

Genetic Testing And Molecular Biomarkers
Ma, Qi Q; Wang, Li L; Yao, Hua H; Wang, Ting-ting TT; Ma, Yan Y; Su, Yin-xia YX; Wang, Zhi-qiang ZQ; Zhu, Jun J; Wang, Shu-xia SX; Zhang, Zhao-Xia ZX; Hou, Qin-qin QQ; Cai, Ren R; Gong, Xue-li XL; Jiang, Xiao-yan XY
Publication Date: 2015-12

Variant appearance in text: rs2074196
PubMed Link: 26540651
Variant Present in the following documents:
  • Main text
View BVdb publication page



Positive Association Between Type 2 Diabetes Risk Alleles Near CDKAL1 and Reduced Birthweight in Chinese Han Individuals.

Chinese Medical Journal
Sun, Xiao-Fang XF; Xiao, Xin-Hua XH; Zhang, Zhen-Xin ZX; Liu, Ying Y; Xu, Tao T; Zhu, Xi-Lin XL; Zhang, Yun Y; Wu, Xiao-Pan XP; Li, Wen-Hui WH; Zhang, Hua-Bing HB; Yu, Miao M
Publication Date: 2015-07-20

Variant appearance in text: rs2074196
PubMed Link: 26168825
Variant Present in the following documents:
  • CMJ-128-1873.pdf
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KCNQ1 rs2237892 C→T gene polymorphism and type 2 diabetes mellitus in the Asian population: a meta-analysis of 15,736 patients.

Journal Of Cellular And Molecular Medicine
Li, Yan-yan YY; Wang, Xiang-ming XM; Lu, Xin-zheng XZ
Publication Date: 2014-02

Variant appearance in text: rs2074196
PubMed Link: 24373634
Variant Present in the following documents:
  • Main text
  • jcmm0018-0274.pdf
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Epidemiology and genetic determinants of progressive deterioration of glycaemia in American Indians: the Strong Heart Family Study.

Diabetologia
Franceschini, N N; Haack, K K; Göring, H H H HH; Voruganti, V S VS; Laston, S S; Almasy, L L; Lee, E T ET; Best, L G LG; Fabsitz, R R RR; North, K E KE; Maccluer, J W JW; Meigs, J B JB; Pankow, J S JS; Cole, S A SA
Publication Date: 2013-10

Variant appearance in text: rs2074196
PubMed Link: 23851660
Variant Present in the following documents:
  • Main text
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The association of genetic variants of type 2 diabetes with kidney function.

Kidney International
Franceschini, Nora N; Shara, Nawar M NM; Wang, Hong H; Voruganti, V Saroja VS; Laston, Sandy S; Haack, Karin K; Lee, Elisa T ET; Best, Lyle G LG; Maccluer, Jean W JW; Cochran, Barbara J BJ; Dyer, Thomas D TD; Howard, Barbara V BV; Cole, Shelley A SA; North, Kari E KE; Umans, Jason G JG
Publication Date: 2012-07

Variant appearance in text: rs2074196
PubMed Link: 22513821
Variant Present in the following documents:
  • Main text
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Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases.

Plos Genetics
Chen, Rong R; Corona, Erik E; Sikora, Martin M; Dudley, Joel T JT; Morgan, Alex A AA; Moreno-Estrada, Andres A; Nilsen, Geoffrey B GB; Ruau, David D; Lincoln, Stephen E SE; Bustamante, Carlos D CD; Butte, Atul J AJ
Publication Date: 2012

Variant appearance in text: rs2074196
PubMed Link: 22511877
Variant Present in the following documents:
  • Main text
  • pgen.1002621.pdf
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Type 2 diabetes risk variants and colorectal cancer risk: the Multiethnic Cohort and PAGE studies.

Gut
Cheng, Iona I; Caberto, Christian P CP; Lum-Jones, Annette A; Seifried, Ann A; Wilkens, Lynne R LR; Schumacher, Fredrick R FR; Monroe, Kristine R KR; Lim, Unhee U; Tiirikainen, Maarit M; Kolonel, Laurence N LN; Henderson, Brian E BE; Stram, Daniel O DO; Haiman, Christopher A CA; Le Marchand, Loïc L
Publication Date: 2011-12

Variant appearance in text: rs2074196
PubMed Link: 21602532
Variant Present in the following documents:
  • Main text
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A variant in the KCNQ1 gene predicts future type 2 diabetes and mediates impaired insulin secretion.

Diabetes
Jonsson, Anna A; Isomaa, Bo B; Tuomi, Tiinamaija T; Taneera, Jalal J; Salehi, Albert A; Nilsson, Peter P; Groop, Leif L; Lyssenko, Valeriya V
Publication Date: 2009-10

Variant appearance in text: rs2074196
PubMed Link: 19584308
Variant Present in the following documents:
  • Main text
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Variants in KCNQ1 are associated with susceptibility to type 2 diabetes in the population of mainland China.

Diabetologia
Liu, Y Y; Zhou, D Z DZ; Zhang, D D; Chen, Z Z; Zhao, T T; Zhang, Z Z; Ning, M M; Hu, X X; Yang, Y F YF; Zhang, Z F ZF; Yu, L L; He, L L; Xu, H H
Publication Date: 2009-07

Variant appearance in text: rs2074196
PubMed Link: 19448982
Variant Present in the following documents:
  • Main text
  • 125_2009_Article_1375.pdf
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