GTF2H1 c.*712G>C

Variant ID: 11-18388128-G-C

NM_005316.3(GTF2H1):c.*712G>C

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05

Variant appearance in text: rs4596
PubMed Link: 37277652
Variant Present in the following documents:
  • 41588_2023_1409_MOESM4_ESM.pdf
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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: rs4596
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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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: rs4596
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs4596
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



The rs7911488-T allele promotes the growth and metastasis of colorectal cancer through modulating miR-1307/PRRX1.

Cell Death & Disease
Yang, Man M; Liu, Xinchang X; Meng, Fanyi F; Zhang, Yawen Y; Wang, Mengmeng M; Chen, Yinshuang Y; Guo, Xuqin X; Chen, Weichang W; Wang, Weipeng W
Publication Date: 2020-08-07

Variant appearance in text: rs4596
PubMed Link: 32811812
Variant Present in the following documents:
  • Main text
  • 41419_2020_Article_2834.pdf
View BVdb publication page



Single Nucleotide Polymorphisms in MiRNA Binding Sites of Nucleotide Excision Repair-Related Genes Predict Clinical Benefit of Oxaliplatin in FOLFOXIRI Plus Bevacizumab: Analysis of the TRIBE Trial.

Cancers
Suenaga, Mitsukuni M; Schirripa, Marta M; Cao, Shu S; Zhang, Wu W; Yang, Dongyun D; Cremolini, Chiara C; Murgioni, Sabina S; Lonardi, Sara S; Ning, Yan Y; Okazaki, Satoshi S; Berger, Martin D MD; Miyamoto, Yuji Y; Barzi, Afsaneh A; Loupakis, Fotios F; Falcone, Alfredo A; Lenz, Heinz-Josef HJ
Publication Date: 2020-06-30

Variant appearance in text: rs4596
PubMed Link: 32629861
Variant Present in the following documents:
  • Main text
  • cancers-12-01742.pdf
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Effects of microRNAs polymorphism in cancer progression.

Medical Journal Of The Islamic Republic Of Iran
SiamiGorji, Simin S; Jorjani, Isa I; Tahamtan, Alireza A; Moradi, Abdolvahab A
Publication Date: 2020

Variant appearance in text: rs4596
PubMed Link: 32284927
Variant Present in the following documents:
  • Main text
  • mjiri-34-3.pdf
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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs4596
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
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Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Journal Of Cancer
Liu, Jingwei J; Zheng, Bowen B; Li, Ying Y; Yuan, Yuan Y; Xing, Chengzhong C
Publication Date: 2019

Variant appearance in text: rs4596
PubMed Link: 31031852
Variant Present in the following documents:
  • Main text
  • jcav10p1417.pdf
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Transcriptional Regulatory Mechanisms in Adipose and Muscle Tissue Associated with Composite Glucometabolic Phenotypes.

Obesity (Silver Spring, Md.)
Langefeld, Carl D CD; Comeau, Mary E ME; Sharma, Neeraj K NK; Bowden, Donald W DW; Freedman, Barry I BI; Das, Swapan K SK
Publication Date: 2018-03

Variant appearance in text: rs4596
PubMed Link: 29377571
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs4596
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Exploring genetic associations with ceRNA regulation in the human genome.

Nucleic Acids Research
Li, Mulin Jun MJ; Zhang, Jian J; Liang, Qian Q; Xuan, Chenghao C; Wu, Jiexing J; Jiang, Peng P; Li, Wei W; Zhu, Yun Y; Wang, Panwen P; Fernandez, Daniel D; Shen, Yujun Y; Chen, Yiwen Y; Kocher, Jean-Pierre A JA; Yu, Ying Y; Sham, Pak Chung PC; Wang, Junwen J; Liu, Jun S JS; Liu, X Shirley XS
Publication Date: 2017-06-02

Variant appearance in text: rs4596
PubMed Link: 28472449
Variant Present in the following documents:
  • Main text
  • gkx331.pdf
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MicroRNA in rectal cancer.

World Journal Of Gastrointestinal Oncology
Azizian, Azadeh A; Gruber, Jens J; Ghadimi, B Michael BM; Gaedcke, Jochen J
Publication Date: 2016-05-15

Variant appearance in text: rs4596
PubMed Link: 27190581
Variant Present in the following documents:
  • Main text
View BVdb publication page



MicroRNA polymorphisms and risk of colorectal cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Schmit, Stephanie L SL; Gollub, Jeremy J; Shapero, Michael H MH; Huang, Shu-Chen SC; Rennert, Hedy S HS; Finn, Andrea A; Rennert, Gad G; Gruber, Stephen B SB
Publication Date: 2015-01

Variant appearance in text: rs4596
PubMed Link: 25342389
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease.

International Journal Of Clinical And Experimental Pathology
Wang, Lina L; Zhi, Hong H; Li, Yongjun Y; Ma, Genshan G; Ye, Xingzhou X; Yu, Xiaojin X; Yang, Tian T; Jin, Han H; Lu, Zuhong Z; Wei, Pingmin P
Publication Date: 2014

Variant appearance in text: rs4596
PubMed Link: 25197382
Variant Present in the following documents:
  • Main text
View BVdb publication page



MicroRNA binding site polymorphisms as biomarkers in cancer management and research.

Pharmacogenomics And Personalized Medicine
Cipollini, Monica M; Landi, Stefano S; Gemignani, Federica F
Publication Date: 2014

Variant appearance in text: rs4596
PubMed Link: 25114582
Variant Present in the following documents:
  • Main text
  • pgpm-7-173.pdf
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MicroRNAs in the DNA Damage/Repair Network and Cancer.

International Journal Of Genomics
Tessitore, Alessandra A; Cicciarelli, Germana G; Del Vecchio, Filippo F; Gaggiano, Agata A; Verzella, Daniela D; Fischietti, Mariafausta M; Vecchiotti, Davide D; Capece, Daria D; Zazzeroni, Francesca F; Alesse, Edoardo E
Publication Date: 2014

Variant appearance in text: rs4596
PubMed Link: 24616890
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs4596
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Genetic variants in microRNA target sites of 37 selected cancer-related genes and the risk of cervical cancer.

Plos One
Mi, Yang Y; Wang, Lijuan L; Zong, Lu L; Pei, Meili M; Lu, Qingyang Q; Huang, Pu P
Publication Date: 2014

Variant appearance in text: rs4596
PubMed Link: 24465869
Variant Present in the following documents:
  • Main text
  • pone.0086061.pdf
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SNPs in microRNA binding sites as prognostic and predictive cancer biomarkers.

Critical Reviews In Oncogenesis
Preskill, Carina C; Weidhaas, Joanne B JB
Publication Date: 2013

Variant appearance in text: rs4596
PubMed Link: 23614619
Variant Present in the following documents:
  • Main text
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Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer.

Molecular Carcinogenesis
Buch, Shama C SC; Diergaarde, Brenda B; Nukui, Tomoko T; Day, Roger S RS; Siegfried, Jill M JM; Romkes, Marjorie M; Weissfeld, Joel L JL
Publication Date: 2012-10

Variant appearance in text: rs4596
PubMed Link: 21976407
Variant Present in the following documents:
  • Main text
View BVdb publication page