SMAD3 c.*402C>T

Variant ID: 15-67483276-C-T

NM_005902.3(SMAD3):c.*402C>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs8025774
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



The Relationship Between Single Nucleotide Polymorphisms of SMAD3/SMAD6 and Risk of Esophageal Squamous Cell Carcinoma in Chinese Population.

Pharmacogenomics And Personalized Medicine
Yu, Jinjie J; Dong, Yunpeng Y; Tang, Weifeng W; Pan, Huiwen H; Lv, Lu L; Long, Tao T; Zhou, Qiang Q; Qi, Junqing J; Liu, Jianchao J; Ding, Guowen G; Yin, Jun J; Tan, Lijie L
Publication Date: 2020

Variant appearance in text: rs8025774
PubMed Link: 32904644
Variant Present in the following documents:
  • Main text
  • pgpm-13-355.pdf
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs8025774
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs8025774
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Nature Genetics
Shrine, Nick N; Guyatt, Anna L AL; Erzurumluoglu, A Mesut AM; Jackson, Victoria E VE; Hobbs, Brian D BD; Melbourne, Carl A CA; Batini, Chiara C; Fawcett, Katherine A KA; Song, Kijoung K; Sakornsakolpat, Phuwanat P; Li, Xingnan X; Boxall, Ruth R; Reeve, Nicola F NF; Obeidat, Ma'en M; Zhao, Jing Hua JH; Wielscher, Matthias M; Weiss, Stefan S; Kentistou, Katherine A KA; Cook, James P JP; Sun, Benjamin B BB; Zhou, Jian J; Hui, Jennie J; Karrasch, Stefan S; Imboden, Medea M; Harris, Sarah E SE; Marten, Jonathan J; Enroth, Stefan S; Kerr, Shona M SM; Surakka, Ida I; Vitart, Veronique V; Lehtimäki, Terho T; Allen, Richard J RJ; Bakke, Per S PS; Beaty, Terri H TH; Bleecker, Eugene R ER; Bossé, Yohan Y; Brandsma, Corry-Anke CA; Chen, Zhengming Z; Crapo, James D JD; Danesh, John J; DeMeo, Dawn L DL; Dudbridge, Frank F; Ewert, Ralf R; Gieger, Christian C; Gulsvik, Amund A; Hansell, Anna L AL; Hao, Ke K; Hoffman, Joshua D JD; Hokanson, John E JE; Homuth, Georg G; Joshi, Peter K PK; Joubert, Philippe P; Langenberg, Claudia C; Li, Xuan X; Li, Liming L; Lin, Kuang K; Lind, Lars L; Locantore, Nicholas N; Luan, Jian'an J; Mahajan, Anubha A; Maranville, Joseph C JC; Murray, Alison A; Nickle, David C DC; Packer, Richard R; Parker, Margaret M MM; Paynton, Megan L ML; Porteous, David J DJ; Prokopenko, Dmitry D; Qiao, Dandi D; Rawal, Rajesh R; Runz, Heiko H; Sayers, Ian I; Sin, Don D DD; Smith, Blair H BH; Soler Artigas, María M; Sparrow, David D; Tal-Singer, Ruth R; Timmers, Paul R H J PRHJ; Van den Berge, Maarten M; Whittaker, John C JC; Woodruff, Prescott G PG; Yerges-Armstrong, Laura M LM; Troyanskaya, Olga G OG; Raitakari, Olli T OT; Kähönen, Mika M; Polašek, Ozren O; Gyllensten, Ulf U; Rudan, Igor I; Deary, Ian J IJ; Probst-Hensch, Nicole M NM; Schulz, Holger H; James, Alan L AL; Wilson, James F JF; Stubbe, Beate B; Zeggini, Eleftheria E; Jarvelin, Marjo-Riitta MR; Wareham, Nick N; Silverman, Edwin K EK; Hayward, Caroline C; Morris, Andrew P AP; Butterworth, Adam S AS; Scott, Robert A RA; Walters, Robin G RG; Meyers, Deborah A DA; Cho, Michael H MH; Strachan, David P DP; Hall, Ian P IP; Tobin, Martin D MD; Wain, Louise V LV; ,
Publication Date: 2019-03

Variant appearance in text: rs8025774
PubMed Link: 30804560
Variant Present in the following documents:
  • NIHMS1514965-supplement-1.pdf
View BVdb publication page



Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.

Nature Communications
Wyss, Annah B AB; Sofer, Tamar T; Lee, Mi Kyeong MK; Terzikhan, Natalie N; Nguyen, Jennifer N JN; Lahousse, Lies L; Latourelle, Jeanne C JC; Smith, Albert Vernon AV; Bartz, Traci M TM; Feitosa, Mary F MF; Gao, Wei W; Ahluwalia, Tarunveer S TS; Tang, Wenbo W; Oldmeadow, Christopher C; Duan, Qing Q; de Jong, Kim K; Wojczynski, Mary K MK; Wang, Xin-Qun XQ; Noordam, Raymond R; Hartwig, Fernando Pires FP; Jackson, Victoria E VE; Wang, Tianyuan T; Obeidat, Ma'en M; Hobbs, Brian D BD; Huan, Tianxiao T; Gui, Hongsheng H; Parker, Margaret M MM; Hu, Donglei D; Mogil, Lauren S LS; Kichaev, Gleb G; Jin, Jianping J; Graff, Mariaelisa M; Harris, Tamara B TB; Kalhan, Ravi R; Heckbert, Susan R SR; Paternoster, Lavinia L; Burkart, Kristin M KM; Liu, Yongmei Y; Holliday, Elizabeth G EG; Wilson, James G JG; Vonk, Judith M JM; Sanders, Jason L JL; Barr, R Graham RG; de Mutsert, Renée R; Menezes, Ana Maria Baptista AMB; Adams, Hieab H H HHH; van den Berge, Maarten M; Joehanes, Roby R; Levin, Albert M AM; Liberto, Jennifer J; Launer, Lenore J LJ; Morrison, Alanna C AC; Sitlani, Colleen M CM; Celedón, Juan C JC; Kritchevsky, Stephen B SB; Scott, Rodney J RJ; Christensen, Kaare K; Rotter, Jerome I JI; Bonten, Tobias N TN; Wehrmeister, Fernando César FC; Bossé, Yohan Y; Xiao, Shujie S; Oh, Sam S; Franceschini, Nora N; Brody, Jennifer A JA; Kaplan, Robert C RC; Lohman, Kurt K; McEvoy, Mark M; Province, Michael A MA; Rosendaal, Frits R FR; Taylor, Kent D KD; Nickle, David C DC; Williams, L Keoki LK; Burchard, Esteban G EG; Wheeler, Heather E HE; Sin, Don D DD; Gudnason, Vilmundur V; North, Kari E KE; Fornage, Myriam M; Psaty, Bruce M BM; Myers, Richard H RH; O'Connor, George G; Hansen, Torben T; Laurie, Cathy C CC; Cassano, Patricia A PA; Sung, Joohon J; Kim, Woo Jin WJ; Attia, John R JR; Lange, Leslie L; Boezen, H Marike HM; Thyagarajan, Bharat B; Rich, Stephen S SS; Mook-Kanamori, Dennis O DO; Horta, Bernardo Lessa BL; Uitterlinden, André G AG; Im, Hae Kyung HK; Cho, Michael H MH; Brusselle, Guy G GG; Gharib, Sina A SA; Dupuis, Josée J; Manichaikul, Ani A; London, Stephanie J SJ
Publication Date: 2018-07-30

Variant appearance in text: rs8025774
PubMed Link: 30061609
Variant Present in the following documents:
  • Main text
  • 41467_2018_5369_MOESM1_ESM.pdf
View BVdb publication page



Genetic variants of cell cycle pathway genes predict disease-free survival of hepatocellular carcinoma.

Cancer Medicine
Liu, Shun S; Yang, Tian-Bo TB; Nan, Yue-Li YL; Li, An-Hua AH; Pan, Dong-Xiang DX; Xu, Yang Y; Li, Shu S; Li, Ting T; Zeng, Xiao-Yun XY; Qiu, Xiao-Qiang XQ
Publication Date: 2017-07

Variant appearance in text: rs8025774
PubMed Link: 28639733
Variant Present in the following documents:
  • Main text
  • CAM4-6-1512.pdf
View BVdb publication page



Relationships between cell cycle pathway gene polymorphisms and risk of hepatocellular carcinoma.

World Journal Of Gastroenterology
Nan, Yue-Li YL; Hu, Yan-Ling YL; Liu, Zhi-Ke ZK; Duan, Fang-Fang FF; Xu, Yang Y; Li, Shu S; Li, Ting T; Chen, Da-Fang DF; Zeng, Xiao-Yun XY
Publication Date: 2016-06-28

Variant appearance in text: rs8025774
PubMed Link: 27350734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predictive role of microRNA-related genetic polymorphisms in the pathological complete response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer patients.

Oncotarget
Dreussi, Eva E; Pucciarelli, Salvatore S; De Paoli, Antonino A; Polesel, Jerry J; Canzonieri, Vincenzo V; Agostini, Marco M; Friso, Maria Luisa ML; Belluco, Claudio C; Buonadonna, Angela A; Lonardi, Sara S; Zanusso, Chiara C; De Mattia, Elena E; Toffoli, Giuseppe G; Cecchin, Erika E
Publication Date: 2016-04-12

Variant appearance in text: rs8025774
PubMed Link: 26934318
Variant Present in the following documents:
  • Main text
  • oncotarget-07-19781.pdf
View BVdb publication page



Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome.

Osteoarthritis And Cartilage
Raine, E V A EV; Reynard, L N LN; van de Laar, I M B H IM; Bertoli-Avella, A M AM; Loughlin, J J
Publication Date: 2014-05

Variant appearance in text: rs8025774
PubMed Link: 24583347
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: rs8025774
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page