SLC10A1 c.800C>T ;(p.S267F)

Variant ID: 14-70245193-G-A

NM_003049.3(SLC10A1):c.800C>T;(p.S267F)

This variant was identified in 89 publications

View GRCh38 version.




Publications:


Genetic Variants within SARS-CoV-2 Human Receptor Genes May Contribute to Variable Disease Outcomes in Different Ethnicities.

International Journal Of Molecular Sciences
Adimulam, Theolan T; Arumugam, Thilona T; Gokul, Anmol A; Ramsuran, Veron V
Publication Date: 2023-05-13

Variant appearance in text: SLC10A1: S267F; rs2296651
PubMed Link: 37240057
Variant Present in the following documents:
  • Main text
  • ijms-24-08711.pdf
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LINC00659 Inhibits Hepatocellular Carcinoma Malignant Progression by Blocking Aerobic Glycolysis through FUS Recruitment and SLC10A1 Modulation.

Analytical Cellular Pathology (Amsterdam)
Chen, Bin B; Xu, Xin X; Wu, Wei W; Zheng, Ke K; Yu, Yijun Y
Publication Date: 2023

Variant appearance in text: NTCP: S267F; rs2296651
PubMed Link: 37234237
Variant Present in the following documents:
  • ACP2023-5852963.pdf
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Role of Hepatocyte Transporters in Drug-Induced Liver Injury (DILI)-In Vitro Testing.

Pharmaceutics
Tátrai, Péter P; Erdő, Franciska F; Krajcsi, Péter P
Publication Date: 2022-12-22

Variant appearance in text: NTCP: 800C>T
PubMed Link: 36678658
Variant Present in the following documents:
  • Main text
  • pharmaceutics-15-00029.pdf
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The Clinical Relevance and Immune Correlation of SLC10 Family Genes in Liver Cancer.

Journal Of Hepatocellular Carcinoma
Tian, Shan S; Li, Jiao J; Xiang, Jiankang J; Peng, Pailan P
Publication Date: 2022

Variant appearance in text: NTCP: S267F
PubMed Link: 36606115
Variant Present in the following documents:
  • Main text
  • jhc-9-1415.pdf
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Sex difference in the associations among risk factors with hepatitis B and C infections in a large Taiwanese population study.

Frontiers In Public Health
Wang, Angela Chiunhsien AC; Geng, Jiun-Hung JH; Wang, Chih-Wen CW; Wu, Da-Wei DW; Chen, Szu-Chia SC
Publication Date: 2022

Variant appearance in text: rs2296651
PubMed Link: 36530675
Variant Present in the following documents:
  • Main text
  • fpubh-10-1068078.pdf
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Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Frontiers In Pediatrics
Zhang, Wen W; Dai, Xiaohui X; Liu, Hanmin H; Li, Lei L; Zhou, Shu S; Zhu, Qi Q; Chen, Jiao J
Publication Date: 2022

Variant appearance in text: SLC10A1: 800C>T; S267F; rs2296651
PubMed Link: 36507129
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
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Thyroid Hormone Transporters in Pregnancy and Fetal Development.

International Journal Of Molecular Sciences
Chen, Zhongli Z; Meima, Marcel E ME; Peeters, Robin P RP; Visser, W Edward WE
Publication Date: 2022-12-01

Variant appearance in text: NTCP: Ser267Phe
PubMed Link: 36499435
Variant Present in the following documents:
  • Main text
  • ijms-23-15113.pdf
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The Etiology of Cholelithiasis in Children and Adolescents-A Literature Review.

International Journal Of Molecular Sciences
Zdanowicz, Katarzyna K; Daniluk, Jaroslaw J; Lebensztejn, Dariusz Marek DM; Daniluk, Urszula U
Publication Date: 2022-11-02

Variant appearance in text: NTCP: Ser267Phe
PubMed Link: 36362164
Variant Present in the following documents:
  • Main text
  • ijms-23-13376.pdf
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Heterogeneity of immune control in chronic hepatitis B virus infection: Clinical implications on immunity with interferon-α treatment and retreatment.

World Journal Of Gastroenterology
Yin, Guo-Qing GQ; Chen, Ke-Ping KP; Gu, Xiao-Chun XC
Publication Date: 2022-10-28

Variant appearance in text: rs2296651
PubMed Link: 36353205
Variant Present in the following documents:
  • WJG-28-5784.pdf
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Common and Rare PCSK9 Variants Associated with Low-Density Lipoprotein Cholesterol Levels and the Risk of Diabetes Mellitus: A Mendelian Randomization Study.

International Journal Of Molecular Sciences
Hsu, Lung-An LA; Teng, Ming-Sheng MS; Wu, Semon S; Chou, Hsin-Hua HH; Ko, Yu-Lin YL
Publication Date: 2022-09-08

Variant appearance in text: rs2296651
PubMed Link: 36142332
Variant Present in the following documents:
  • Main text
  • ijms-23-10418.pdf
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NTCP Deficiency Affects the Levels of Circulating Bile Acids and Induces Osteoporosis.

Frontiers In Endocrinology
Yang, Fangji F; Xu, Wenxiong W; Wu, Lina L; Yang, Luo L; Zhu, Shu S; Wang, Lu L; Wu, Wenbin W; Zhang, Yuzhen Y; Chong, Yutian Y; Peng, Liang L
Publication Date: 2022

Variant appearance in text: NTCP: 800C>T; rs2296651
PubMed Link: 35937832
Variant Present in the following documents:
  • Main text
  • fendo-13-898750.pdf
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Efficacy and Safety of Bulevirtide plus Tenofovir Disoproxil Fumarate in Real-World Patients with Chronic Hepatitis B and D Co-Infection.

Pathogens (Basel, Switzerland)
Herta, Toni T; Hahn, Magdalena M; Maier, Melanie M; Fischer, Janett J; Niemeyer, Johannes J; Hönemann, Mario M; Böhlig, Albrecht A; Gerhardt, Florian F; Schindler, Aaron A; Schumacher, Jonas J; Berg, Thomas T; Wiegand, Johannes J; van Bömmel, Florian F
Publication Date: 2022-04-27

Variant appearance in text: rs2296651
PubMed Link: 35631038
Variant Present in the following documents:
  • Main text
  • pathogens-11-00517.pdf
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Structural basis of sodium-dependent bile salt uptake into the liver.

Nature
Goutam, Kapil K; Ielasi, Francesco S FS; Pardon, Els E; Steyaert, Jan J; Reyes, Nicolas N
Publication Date: 2022-06

Variant appearance in text: NTCP: S267F
PubMed Link: 35545671
Variant Present in the following documents:
  • Main text
  • 41586_2022_Article_4723.pdf
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Regulation of the HBV Entry Receptor NTCP and its Potential in Hepatitis B Treatment.

Frontiers In Molecular Biosciences
Li, Yan Y; Zhou, Jun J; Li, Tianliang T
Publication Date: 2022

Variant appearance in text: NTCP: 800C>T
PubMed Link: 35495620
Variant Present in the following documents:
  • Main text
  • fmolb-09-879817.pdf
View BVdb publication page



Structural Plasticity Is a Feature of Rheostat Positions in the Human Na+/Taurocholate Cotransporting Polypeptide (NTCP).

International Journal Of Molecular Sciences
Ruggiero, Melissa J MJ; Malhotra, Shipra S; Fenton, Aron W AW; Swint-Kruse, Liskin L; Karanicolas, John J; Hagenbuch, Bruno B
Publication Date: 2022-03-16

Variant appearance in text: NTCP: S267F
PubMed Link: 35328632
Variant Present in the following documents:
  • Main text
  • ijms-23-03211.pdf
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De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report.

World Journal Of Clinical Cases
Liu, Hui-Yan HY; Li, Meng M; Li, Qi Q
Publication Date: 2021-12-26

Variant appearance in text: SLC10A1: 800C>T
PubMed Link: 35071582
Variant Present in the following documents:
  • Main text
  • WJCC-9-11487.pdf
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Multitasking Na+/Taurocholate Cotransporting Polypeptide (NTCP) as a Drug Target for HBV Infection: From Protein Engineering to Drug Discovery.

Biomedicines
Zakrzewicz, Dariusz D; Geyer, Joachim J
Publication Date: 2022-01-17

Variant appearance in text: NTCP: 800C>T; rs2296651
PubMed Link: 35052874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetically edited hepatic cells expressing the NTCP-S267F variant are resistant to hepatitis B virus infection.

Molecular Therapy. Methods & Clinical Development
Uchida, Takuro T; Park, Seung Bum SB; Inuzuka, Tadashi T; Zhang, Min M; Allen, Joselyn N JN; Chayama, Kazuaki K; Liang, T Jake TJ
Publication Date: 2021-12-10

Variant appearance in text: NTCP: 800C>T; rs2296651
PubMed Link: 34853804
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: SLC10A1: 800C>T; S267F; rs2296651
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.

Embo Molecular Medicine
Pan, Qiong Q; Luo, Gang G; Qu, Jiaquan J; Chen, Sheng S; Zhang, Xiaoxun X; Zhao, Nan N; Ding, Jingjing J; Yang, Hong H; Li, Mingqiao M; Li, Ling L; Cheng, Ying Y; Li, Xuan X; Xie, Qiaoling Q; Li, Qiao Q; Zhou, Xueqian X; Zou, Huiling H; Fan, Shijun S; Zou, Lingyun L; Liu, Wei W; Deng, Guohong G; Cai, Shi-Ying SY; Boyer, James L JL; Chai, Jin J
Publication Date: 2021-11-08

Variant appearance in text: SLC10A1: Ser267Phe
PubMed Link: 34585848
Variant Present in the following documents:
  • Main text
  • EMMM-13-e14563.pdf
  • EMMM-13-e14563-s001.pdf
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Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.

Liver International : Official Journal Of The International Association For The Study Of The Liver
Deng, Li-Jing LJ; Ouyang, Wen-Xian WX; Liu, Rui R; Deng, Mei M; Qiu, Jian-Wu JW; Yaqub, Muhammad-Rauf MR; Raza, Muhammad-Atif MA; Lin, Wei-Xia WX; Guo, Li L; Li, Hua H; Chen, Feng-Ping FP; Ouyang, Ying Y; Huang, Yu-Ge YG; Huang, Yue-Jun YJ; Long, Xiao-Ling XL; Huang, Xiao-Ling XL; Li, Shuang-Jie SJ; Song, Yuan-Zong YZ
Publication Date: 2021-11

Variant appearance in text: SLC10A1: 800C>T
PubMed Link: 34369070
Variant Present in the following documents:
  • Main text
  • LIV-41-2720.pdf
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Substrate Specificities and Inhibition Pattern of the Solute Carrier Family 10 Members NTCP, ASBT and SOAT.

Frontiers In Molecular Biosciences
Grosser, Gary G; Müller, Simon Franz SF; Kirstgen, Michael M; Döring, Barbara B; Geyer, Joachim J
Publication Date: 2021

Variant appearance in text: NTCP: S267F
PubMed Link: 34079822
Variant Present in the following documents:
  • Main text
  • fmolb-08-689757.pdf
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Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.

Translational Pediatrics
Zou, Ting-Ting TT; Zhu, Yu Y; Wan, Chao-Min CM; Liao, Qiong Q
Publication Date: 2021-04

Variant appearance in text: SLC10A1: 800C>T
PubMed Link: 34012853
Variant Present in the following documents:
  • Main text
  • tp-10-04-1045.pdf
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Rotor Syndrome: Glucuronidated Bile Acidemia From Defective Reuptake by Hepatocytes.

Hepatology Communications
Kimura, Akihiko A; Kagawa, Tatehiro T; Takei, Hajime H; Maruo, Yoshihiro Y; Sakugawa, Hiroshi H; Sasaki, Takahiro T; Murai, Tsuyoshi T; Naritaka, Nakayuki N; Takikawa, Hajime H; Nittono, Hiroshi H
Publication Date: 2021-04

Variant appearance in text: SLC10A1: 800C>T
PubMed Link: 33860121
Variant Present in the following documents:
  • Main text
  • HEP4-5-629.pdf
View BVdb publication page



Genome-wide association study identifies new loci associated with risk of HBV infection and disease progression.

Bmc Medical Genomics
Zeng, Zheng Z; Liu, Hankui H; Xu, Huifang H; Lu, Haiying H; Yu, Yanyan Y; Xu, Xiaoyuan X; Yu, Min M; Zhang, Tao T; Tian, Xiulan X; Xi, Hongli H; Guan, Liping L; Zhang, Jianguo J; O'Brien, Stephen J SJ; ,
Publication Date: 2021-03-18

Variant appearance in text: NTCP: S267F
PubMed Link: 33736632
Variant Present in the following documents:
  • Main text
View BVdb publication page



The NTCP p.Ser267Phe Variant Is Associated With a Faster Anti-HBV Effect on First-Line Nucleos(t)ide Analog Treatment.

Frontiers In Pharmacology
Wu, Lina L; Xu, Wenxiong W; Li, Xuejun X; Liu, Ying Y; Wang, Lu L; Zhu, Shu S; Yang, Fangji F; Xie, Chan C; Peng, Liang L
Publication Date: 2021

Variant appearance in text: NTCP: Ser267Phe; rs2296651
PubMed Link: 33716744
Variant Present in the following documents:
  • Main text
  • fphar-12-616858.pdf
View BVdb publication page



Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci.

Clinical And Translational Medicine
Wang, Zixian Z; Zhu, Qian Q; Liu, Yibin Y; Chen, Shiyu S; Zhang, Ying Y; Ma, Qilin Q; Chen, Xiaoping X; Liu, Chen C; Lei, Heping H; Chen, Hui H; Wang, Jing J; Zheng, Shufen S; Li, Zehua Z; Xiong, Lingjuan L; Lai, Weihua W; Zhong, Shilong S
Publication Date: 2021-02

Variant appearance in text: rs2296651
PubMed Link: 33634981
Variant Present in the following documents:
  • Main text
  • CTM2-11-e290.pdf
View BVdb publication page



Targeting the Four Pillars of Enterohepatic Bile Salt Cycling; Lessons From Genetics and Pharmacology.

Hepatology (Baltimore, Md.)
Kunst, Roni F RF; Verkade, Henkjan J HJ; Oude Elferink, Ronald P J RPJ; van de Graaf, Stan F J SFJ
Publication Date: 2021-06

Variant appearance in text: NTCP: Ser267Phe; rs2296651
PubMed Link: 33222321
Variant Present in the following documents:
  • Main text
View BVdb publication page



A clinically relevant polymorphism in the Na+/taurocholate cotransporting polypeptide (NTCP) occurs at a rheostat position.

The Journal Of Biological Chemistry
Ruggiero, Melissa J MJ; Malhotra, Shipra S; Fenton, Aron W AW; Swint-Kruse, Liskin L; Karanicolas, John J; Hagenbuch, Bruno B
Publication Date: 2021

Variant appearance in text: NTCP: S267F
PubMed Link: 33168628
Variant Present in the following documents:
  • Main text
View BVdb publication page



Roles of Farnesyl-Diphosphate Farnesyltransferase 1 in Tumour and Tumour Microenvironments.

Cells
Ha, Nguyen Thi NT; Lee, Chang Hoon CH
Publication Date: 2020-10-25

Variant appearance in text: SLC10A1: S267F
PubMed Link: 33113804
Variant Present in the following documents:
  • Main text
  • cells-09-02352.pdf
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NTCP Deficiency Causes Gallbladder Abnormalities in Mice and Human Beings.

Cellular And Molecular Gastroenterology And Hepatology
Mao, Fengfeng F; Wang, Meng-Xuan MX; Hou, Xinfeng X; Zhou, Zhongmin Z; Yan, Yan-Yan YY; Fang, Ling-Juan LJ; Tan, Zexi Z; Fang, Wei-Yuan WY; Liu, Teng T; He, Wenhui W; Li, Cong C; Xie, Xin-Bao XB; Lu, Shi-Qi SQ; Sui, Jianhua J; Wang, Fengchao F; Han, Jun J; Wang, Jian-She JS; Li, Wenhui W
Publication Date: 2021

Variant appearance in text: NTCP: Ser267Phe
PubMed Link: 32919083
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A New Treatment for Chronic Hepatitis B and D Offers Novel Insights Into Obesity and Hepatic Steatosis.

Cellular And Molecular Gastroenterology And Hepatology
Schierwagen, Robert R; Klein, Sabine S; Trebicka, Jonel J
Publication Date: 2020

Variant appearance in text: NTCP: S267F; rs2296651
PubMed Link: 32735954
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



NTCP gene polymorphisms and hepatitis B virus infection status in a Ghanaian population.

Virology Journal
Nyarko, Eric E; Obirikorang, Christian C; Owiredu, W K B A WKBA; Adu, Evans Asamoah EA; Acheampong, Emmanuel E; Aidoo, Freeman F; Ofori, Emmanuel E; Addy, Bright Selorm BS; Asare-Anane, Henry H
Publication Date: 2020-07-03

Variant appearance in text: SLC10A1: S267F; rs2296651
PubMed Link: 32620148
Variant Present in the following documents:
  • Main text
  • 12985_2020_Article_1376.pdf
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Mechanistic insights into the inhibition of NTCP by myrcludex B.

Jhep Reports : Innovation In Hepatology
Donkers, Joanne M JM; Appelman, Monique D MD; van de Graaf, Stan F J SFJ
Publication Date: 2019-10

Variant appearance in text: NTCP: S267F
PubMed Link: 32039379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of SLCO1B1 Genetic Variation on Rosuvastatin Systemic Exposure in Pediatric Hypercholesterolemia.

Clinical And Translational Science
Wagner, Jonathan B JB; Abdel-Rahman, Susan S; Gaedigk, Andrea A; Gaedigk, Roger R; Raghuveer, Geetha G; Staggs, Vincent S VS; Van Haandel, Leon L; Leeder, J Steven JS
Publication Date: 2020-05

Variant appearance in text: SLC10A1: 800C>T
PubMed Link: 31981411
Variant Present in the following documents:
  • Main text
  • CTS-13-628.pdf
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Utility of genetic variants to predict prognosis in coronary artery disease patients receiving statin treatment.

International Journal Of Clinical And Experimental Pathology
Zhu, Li L; Ji, Xiaoli X; Jiang, Lin L; Zhu, Yabin Y; Xu, Yumin Y; Jiang, Qinxiao Q; Bao, Jingjing J; Ye, Jun J; Sheng, Haihui H; Yu, Hong H
Publication Date: 2017

Variant appearance in text: rs2296651
PubMed Link: 31966745
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases.

Frontiers In Genetics
Lin, Hui H; Qiu, Jian-Wu JW; Rauf, Yaqub-Muhammad YM; Lin, Gui-Zhi GZ; Liu, Rui R; Deng, Li-Jing LJ; Deng, Mei M; Song, Yuan-Zong YZ
Publication Date: 2019

Variant appearance in text: SLC10A1: 800C>T
PubMed Link: 31788003
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg).

Molecular Medicine Reports
Li, Hua H; Deng, Mei M; Guo, Li L; Qiu, Jian-Wu JW; Lin, Gui-Zhi GZ; Long, Xiao-Ling XL; Xiao, Xiao-Min XM; Song, Yuan-Zong YZ
Publication Date: 2019-12

Variant appearance in text: SLC10A1: 800C>T
PubMed Link: 31661128
Variant Present in the following documents:
  • Main text
  • mmr-20-06-4915.pdf
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Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients.

Medicine
Dong, Chen C; Zhang, Ben-Ping BP; Wang, Hong H; Xu, Hui H; Zhang, Chao C; Cai, Zai-Sheng ZS; Wang, Dao-Wen DW; Shu, Sai-Nan SN; Huang, Zhi-Hua ZH; Luo, Xiao-Ping XP
Publication Date: 2019-09

Variant appearance in text: SLC10A1: 800C>T
PubMed Link: 31574858
Variant Present in the following documents:
  • Main text
  • medi-98-e17305.pdf
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Host Genetic Determinants of Hepatitis B Virus Infection.

Frontiers In Genetics
Zhang, Zhenhua Z; Wang, Changtai C; Liu, Zhongping Z; Zou, Guizhou G; Li, Jun J; Lu, Mengji M
Publication Date: 2019

Variant appearance in text: NTCP: S267F; rs2296651
PubMed Link: 31475028
Variant Present in the following documents:
  • Main text
View BVdb publication page