HNF4A c.350C>T ;(p.T117I)

Variant ID: 20-43042364-C-T

NM_175914.4(HNF4A):c.350C>T;(p.T117I)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.

Metabolism Open
Daggag, Hinda H; Gjesing, Anette P AP; Mohammad, Alshafi A; Ängquist, Lars L; Shobi, Bindu B; Antony, Suma S; Haj, Dalia D; Al Tikriti, Alia A; Buckley, Adam A; Hansen, Torben T; Barakat, Maha T MT
Publication Date: 2022-12

Variant appearance in text: HNF4A: T117I; rs1800961
PubMed Link: 36407475
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.

Nature Communications
Kim, Young Jin YJ; Moon, Sanghoon S; Hwang, Mi Yeong MY; Han, Sohee S; Jang, Hye-Mi HM; Kong, Jinhwa J; Shin, Dong Mun DM; Yoon, Kyungheon K; Kim, Sung Min SM; Lee, Jong-Eun JE; Mahajan, Anubha A; Park, Hyun-Young HY; McCarthy, Mark I MI; Cho, Yoon Shin YS; Kim, Bong-Jo BJ
Publication Date: 2022-11-04

Variant appearance in text: HNF4A: Thr117Ile; rs1800961
PubMed Link: 36333282
Variant Present in the following documents:
  • 41467_2022_34163_MOESM3_ESM.xlsx, sheet 8
View BVdb publication page



Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.

Communications Biology
Moksnes, Marta R MR; Graham, Sarah E SE; Wu, Kuan-Han KH; Hansen, Ailin Falkmo AF; Gagliano Taliun, Sarah A SA; Zhou, Wei W; Thorstensen, Ketil K; Fritsche, Lars G LG; Gill, Dipender D; Mason, Amy A; Cucca, Francesco F; Schlessinger, David D; Abecasis, Gonçalo R GR; Burgess, Stephen S; Åsvold, Bjørn Olav BO; Nielsen, Jonas B JB; Hveem, Kristian K; Willer, Cristen J CJ; Brumpton, Ben M BM
Publication Date: 2022-06-16

Variant appearance in text: HNF4A: T117I; rs1800961
PubMed Link: 35710628
Variant Present in the following documents:
  • 42003_2022_3529_MOESM3_ESM.xlsx, sheet 5
  • 42003_2022_3529_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: HNF4A: T117I; rs1800961
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: HNF4A: T117I
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications
Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA
Publication Date: 2018-09

Variant appearance in text: HNF4A: T117I; rs1800961
PubMed Link: 30202817
Variant Present in the following documents:
  • HEP4-2-1021-s001.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: HNF4A: T117I; rs1800961
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

American Journal Of Human Genetics
Chami, Nathalie N; Chen, Ming-Huei MH; Slater, Andrew J AJ; Eicher, John D JD; Evangelou, Evangelos E; Tajuddin, Salman M SM; Love-Gregory, Latisha L; Kacprowski, Tim T; Schick, Ursula M UM; Nomura, Akihiro A; Giri, Ayush A; Lessard, Samuel S; Brody, Jennifer A JA; Schurmann, Claudia C; Pankratz, Nathan N; Yanek, Lisa R LR; Manichaikul, Ani A; Pazoki, Raha R; Mihailov, Evelin E; Hill, W David WD; Raffield, Laura M LM; Burt, Amber A; Bartz, Traci M TM; Becker, Diane M DM; Becker, Lewis C LC; Boerwinkle, Eric E; Bork-Jensen, Jette J; Bottinger, Erwin P EP; O'Donoghue, Michelle L ML; Crosslin, David R DR; de Denus, Simon S; Dubé, Marie-Pierre MP; Elliott, Paul P; Engström, Gunnar G; Evans, Michele K MK; Floyd, James S JS; Fornage, Myriam M; Gao, He H; Greinacher, Andreas A; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hernesniemi, Jussi J; Highland, Heather M HM; Hirschhorn, Joel N JN; Hofman, Albert A; Irvin, Marguerite R MR; Kähönen, Mika M; Lange, Ethan E; Launer, Lenore J LJ; Lehtimäki, Terho T; Li, Jin J; Liewald, David C M DC; Linneberg, Allan A; Liu, Yongmei Y; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; Mägi, Reedik R; Mathias, Rasika A RA; Melander, Olle O; Metspalu, Andres A; Mononen, Nina N; Nalls, Mike A MA; Nickerson, Deborah A DA; Nikus, Kjell K; O'Donnell, Chris J CJ; Orho-Melander, Marju M; Pedersen, Oluf O; Petersmann, Astrid A; Polfus, Linda L; Psaty, Bruce M BM; Raitakari, Olli T OT; Raitoharju, Emma E; Richard, Melissa M; Rice, Kenneth M KM; Rivadeneira, Fernando F; Rotter, Jerome I JI; Schmidt, Frank F; Smith, Albert Vernon AV; Starr, John M JM; Taylor, Kent D KD; Teumer, Alexander A; Thuesen, Betina H BH; Torstenson, Eric S ES; Tracy, Russell P RP; Tzoulaki, Ioanna I; Zakai, Neil A NA; Vacchi-Suzzi, Caterina C; van Duijn, Cornelia M CM; van Rooij, Frank J A FJ; Cushman, Mary M; Deary, Ian J IJ; Velez Edwards, Digna R DR; Vergnaud, Anne-Claire AC; Wallentin, Lars L; Waterworth, Dawn M DM; White, Harvey D HD; Wilson, James G JG; Zonderman, Alan B AB; Kathiresan, Sekar S; Grarup, Niels N; Esko, Tõnu T; Loos, Ruth J F RJ; Lange, Leslie A LA; Faraday, Nauder N; Abumrad, Nada A NA; Edwards, Todd L TL; Ganesh, Santhi K SK; Auer, Paul L PL; Johnson, Andrew D AD; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2016-07-07

Variant appearance in text: HNF4A: 350C>T; Thr117Ile; rs1800961
PubMed Link: 27346685
Variant Present in the following documents:
  • Main text
View BVdb publication page



Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?

Gut And Liver
Oh, Seak Hee SH; Baek, Jiwon J; Kim, Kyung Mo KM; Lee, Eun-Ju EJ; Jung, Yusun Y; Lee, Yeoun Joo YJ; Jin, Hyun-Seung HS; Ye, Byong Duk BD; Yang, Suk-Kyun SK; Lee, Jong-Keuk JK; Seo, Eul-Ju EJ; Lim, Hyun Taek HT; Lee, Inchul I; Song, Kyuyoung K
Publication Date: 2015-11-23

Variant appearance in text: HNF4A: T117I; rs1800961
PubMed Link: 26503572
Variant Present in the following documents:
  • gnl-09-767.pdf
View BVdb publication page



Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

Blood
Huffman, Jennifer E JE; de Vries, Paul S PS; Morrison, Alanna C AC; Sabater-Lleal, Maria M; Kacprowski, Tim T; Auer, Paul L PL; Brody, Jennifer A JA; Chasman, Daniel I DI; Chen, Ming-Huei MH; Guo, Xiuqing X; Lin, Li-An LA; Marioni, Riccardo E RE; Müller-Nurasyid, Martina M; Yanek, Lisa R LR; Pankratz, Nathan N; Grove, Megan L ML; de Maat, Moniek P M MP; Cushman, Mary M; Wiggins, Kerri L KL; Qi, Lihong L; Sennblad, Bengt B; Harris, Sarah E SE; Polasek, Ozren O; Riess, Helene H; Rivadeneira, Fernando F; Rose, Lynda M LM; Goel, Anuj A; Taylor, Kent D KD; Teumer, Alexander A; Uitterlinden, André G AG; Vaidya, Dhananjay D; Yao, Jie J; Tang, Weihong W; Levy, Daniel D; Waldenberger, Melanie M; Becker, Diane M DM; Folsom, Aaron R AR; Giulianini, Franco F; Greinacher, Andreas A; Hofman, Albert A; Huang, Chiang-Ching CC; Kooperberg, Charles C; Silveira, Angela A; Starr, John M JM; Strauch, Konstantin K; Strawbridge, Rona J RJ; Wright, Alan F AF; McKnight, Barbara B; Franco, Oscar H OH; Zakai, Neil N; Mathias, Rasika A RA; Psaty, Bruce M BM; Ridker, Paul M PM; Tofler, Geoffrey H GH; Völker, Uwe U; Watkins, Hugh H; Fornage, Myriam M; Hamsten, Anders A; Deary, Ian J IJ; Boerwinkle, Eric E; Koenig, Wolfgang W; Rotter, Jerome I JI; Hayward, Caroline C; Dehghan, Abbas A; Reiner, Alex P AP; O'Donnell, Christopher J CJ; Smith, Nicholas L NL
Publication Date: 2015-09-10

Variant appearance in text: HNF4A: T117I; rs1800961
PubMed Link: 26105150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: HNF4A: T117I; rs1800961
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page