ABCB4 c.523A>G ;(p.T175A)

Variant ID: 7-87082273-T-C

NM_000443.3(ABCB4):c.523A>G;(p.T175A)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.

Scientific Reports
Zöllner, Julia J; Finer, Sarah S; Linton, Kenneth J KJ; , ; van Heel, David A DA; Williamson, Catherine C; Dixon, Peter H PH
Publication Date: 2023-05-19

Variant appearance in text: ABCB4: T175A; rs58238559
PubMed Link: 37208429
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_33391.pdf
View BVdb publication page



Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: ABCB4: T175A
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc3.xlsx, sheet 32
View BVdb publication page



A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.

Jhep Reports : Innovation In Hepatology
Biyoukar, Moustafa M; Corpechot, Christophe C; El Mouhadi, Sanaâ S; Chambenois, Edouard E; Vanderbecq, Quentin Q; Barbu, Véronique V; Dong, Catherine C; Lemoinne, Sara S; Tordjman, Mickael M; Jomaah, Raphel R; Chazouilleres, Olivier O; Arrivé, Lionel L
Publication Date: 2022-11

Variant appearance in text: ABCB4: 523A>G; Thr175Ala
PubMed Link: 36277956
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.

Hepatology Communications
Nayagam, Jeremy S JS; Foskett, Pierre P; Strautnieks, Sandra S; Agarwal, Kosh K; Miquel, Rosa R; Joshi, Deepak D; Thompson, Richard J RJ
Publication Date: 2022-10

Variant appearance in text: ABCB4: Thr175Ala
PubMed Link: 35894240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.

Cancers
Vitale, Giovanni G; Mattiaccio, Alessandro A; Conti, Amalia A; Turco, Laura L; Seri, Marco M; Piscaglia, Fabio F; Morelli, Maria Cristina MC
Publication Date: 2022-07-14

Variant appearance in text: ABCB4: 523A>G
PubMed Link: 35884482
Variant Present in the following documents:
  • Main text
  • cancers-14-03421.pdf
View BVdb publication page



Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Genes
Wang, Helen H HH; Portincasa, Piero P; Liu, Min M; Wang, David Q-H DQ
Publication Date: 2022-06-11

Variant appearance in text: ABCB4: 523A>G
PubMed Link: 35741809
Variant Present in the following documents:
  • Main text
  • genes-13-01047.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: ABCB4: T175A; rs58238559
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Jhep Reports : Innovation In Hepatology
Dong, Catherine C; Condat, Bertrand B; Picon-Coste, Magalie M; Chrétien, Yves Y; Potier, Pascal P; Noblinski, Béatrice B; Arrivé, Lionel L; Hauuy, Marie-Pierre MP; Barbu, Véronique V; Maftouh, Anware A; Gaouar, Farid F; Ben Belkacem, Karima K; Housset, Chantal C; Poupon, Raoul R; Zanditenas, David D; Chazouillères, Olivier O; Corpechot, Christophe C
Publication Date: 2021-04

Variant appearance in text: ABCB4: Thr175Ala
PubMed Link: 33554096
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Molecular overview of progressive familial intrahepatic cholestasis.

World Journal Of Gastroenterology
Amirneni, Sriram S; Haep, Nils N; Gad, Mohammad A MA; Soto-Gutierrez, Alejandro A; Squires, James E JE; Florentino, Rodrigo M RM
Publication Date: 2020-12-21

Variant appearance in text: MDR3: T175A
PubMed Link: 33384548
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3.

Journal Of Hepatology
Wei, Guangyan G; Cao, Jingsong J; Huang, Pinzhu P; An, Ping P; Badlani, Disha D; Vaid, Kahini A KA; Zhao, Shuangshuang S; Wang, David Q-H DQ; Zhuo, Jenny J; Yin, Ling L; Frassetto, Andrea A; Markel, Arianna A; Presnyak, Vladimir V; Gandham, Srujan S; Hua, Serenus S; Lukacs, Christine C; Finn, Patrick F PF; Giangrande, Paloma H PH; Martini, Paolo G V PGV; Popov, Yury V YV
Publication Date: 2021-06

Variant appearance in text: ABCB4: T175A
PubMed Link: 33340584
Variant Present in the following documents:
  • Main text
  • nihms-1697520.pdf
View BVdb publication page



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: ABCB4: T175A
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_1.xlsx, sheet 6
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: ABCB4: T175A; rs58238559
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Hepatology Communications
Schatz, Stephanie Barbara SB; Jüngst, Christoph C; Keitel-Anselmo, Verena V; Kubitz, Ralf R; Becker, Christina C; Gerner, Patrick P; Pfister, Eva-Doreen ED; Goldschmidt, Imeke I; Junge, Norman N; Wenning, Daniel D; Gehring, Stephan S; Arens, Stefan S; Bretschneider, Dirk D; Grothues, Dirk D; Engelmann, Guido G; Lammert, Frank F; Baumann, Ulrich U
Publication Date: 2018-05

Variant appearance in text: ABCB4: 523A>G
PubMed Link: 29761167
Variant Present in the following documents:
  • Main text
  • HEP4-2-504.pdf
View BVdb publication page



Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget
Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X
Publication Date: 2017-09-26

Variant appearance in text: ABCB4: T175A
PubMed Link: 29088863
Variant Present in the following documents:
  • oncotarget-08-75264-s003.xls, sheet 2
View BVdb publication page



An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.

Scientific Reports
Dixon, Peter H PH; Sambrotta, Melissa M; Chambers, Jennifer J; Taylor-Harris, Pamela P; Syngelaki, Argyro A; Nicolaides, Kypros K; Knisely, A S AS; Thompson, Richard J RJ; Williamson, Catherine C
Publication Date: 2017-09-18

Variant appearance in text: ABCB4: Thr175Ala; rs58238559
PubMed Link: 28924228
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_11626.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ABCB4: 523A>G; Thr175Ala
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports
Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G
Publication Date: 2016-08-22

Variant appearance in text: ABCB4: T175A
PubMed Link: 27545006
Variant Present in the following documents:
  • srep31628-s2.xls, sheet 2
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: ABCB4: T175A; rs58238559
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



A whole genome analyses of genetic variants in two Kelantan Malay individuals.

The Hugo Journal
Wan Juhari, Wan Khairunnisa WK; Md Tamrin, Nur Aida NA; Mat Daud, Mohd Hanif Ridzuan MH; Isa, Hatin Wan HW; Mohd Nasir, Nurfazreen N; Maran, Sathiya S; Abdul Rajab, Nur Shafawati NS; Ahmad Amin Noordin, Khairul Bariah KB; Nik Hassan, Nik Norliza NN; Tearle, Rick R; Razali, Rozaimi R; Merican, Amir Feisal AF; Zilfalil, Bin Alwi BA
Publication Date: 2014-12

Variant appearance in text: rs58238559
PubMed Link: 27090252
Variant Present in the following documents:
  • Main text
  • 11568_2014_Article_4.pdf
View BVdb publication page



MDR3 mutation analysis: A step closer to precision medicine.

Hepatology (Baltimore, Md.)
Bezerra, Jorge A JA
Publication Date: 2016-05

Variant appearance in text: MDR3: T175A
PubMed Link: 26680260
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs58238559
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ABCB4: T175A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: ABCB4: T175A; rs58238559
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
View BVdb publication page



Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics
Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA
Publication Date: 2015-02-11

Variant appearance in text: ABCB4: Thr175Ala; rs58238559
PubMed Link: 25888430
Variant Present in the following documents:
  • Main text
  • 12863_2015_Article_177.pdf
  • 12863_2015_177_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: ABCB4: T175A
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine
Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P
Publication Date: 2014-09

Variant appearance in text: ABCB4: T175A; rs58238559
PubMed Link: 25333069
Variant Present in the following documents:
  • mgg30002-0438-SD2.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: ABCB4: T175A; rs58238559
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

World Journal Of Gastroenterology
Jirsa, Milan M; Bronský, Jiří J; Dvořáková, Lenka L; Šperl, Jan J; Šmajstrla, Vít V; Horák, Jiří J; Nevoral, Jiří J; Hřebíček, Martin M
Publication Date: 2014-05-21

Variant appearance in text: ABCB4: 523A>G; rs58238559
PubMed Link: 24914347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.

Orphanet Journal Of Rare Diseases
Rosmorduc, Olivier O; Poupon, Raoul R
Publication Date: 2007-06-11

Variant appearance in text: ABCB4: Thr175Ala
PubMed Link: 17562004
Variant Present in the following documents:
  • Main text
  • 1750-1172-2-29.pdf
View BVdb publication page