ABCG8 c.1629G>T ;(p.R543S)

Variant ID: 2-44102425-G-T

NM_022437.2(ABCG8):c.1629G>T;(p.R543S)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Journal Of Thrombosis And Haemostasis : Jth
Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K
Publication Date: 2021-10

Variant appearance in text: ABCG8: 1629G>T; Arg543Ser
PubMed Link: 34355501
Variant Present in the following documents:
  • JTH-19-2612-s004.xlsx, sheet 1
View BVdb publication page



Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.

International Journal Of Molecular Sciences
Williams, Kori K; Segard, Allison A; Graf, Gregory A GA
Publication Date: 2021-03-05

Variant appearance in text: ABCG8: R543S
PubMed Link: 33807969
Variant Present in the following documents:
  • Main text
  • ijms-22-02641.pdf
View BVdb publication page



Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS
Publication Date: 2021-01

Variant appearance in text: ABCG8: 1629G>T; Arg543Ser; rs201690654
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
  • Supplementary_Data.pdf
  • br-14-01-01391.pdf
View BVdb publication page



Transmembrane Polar Relay Drives the Allosteric Regulation for ABCG5/G8 Sterol Transporter.

International Journal Of Molecular Sciences
Xavier, Bala M BM; Zein, Aiman A AA; Venes, Angelica A; Wang, Junmei J; Lee, Jyh-Yeuan JY
Publication Date: 2020-11-19

Variant appearance in text: ABCG8: R543S
PubMed Link: 33228147
Variant Present in the following documents:
  • Main text
  • ijms-21-08747.pdf
  • ijms-21-08747-s001.pdf
View BVdb publication page



Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters
Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY
Publication Date: 2020-12

Variant appearance in text: ABCG8: R543S
PubMed Link: 32978801
Variant Present in the following documents:
  • Main text
  • FEB2-594-4035.pdf
View BVdb publication page



Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.

European Heart Journal
Helgadottir, Anna A; Thorleifsson, Gudmar G; Alexandersson, Kristjan F KF; Tragante, Vinicius V; Thorsteinsdottir, Margret M; Eiriksson, Finnur F FF; Gretarsdottir, Solveig S; Björnsson, Eythór E; Magnusson, Olafur O; Sveinbjornsson, Gardar G; Jonsdottir, Ingileif I; Steinthorsdottir, Valgerdur V; Ferkingstad, Egil E; Jensson, Brynjar Ö BÖ; Stefansson, Hreinn H; Olafsson, Isleifur I; Christensen, Alex H AH; Torp-Pedersen, Christian C; Køber, Lars L; Pedersen, Ole B OB; Erikstrup, Christian C; Sørensen, Erik E; Brunak, Søren S; Banasik, Karina K; Hansen, Thomas F TF; Nyegaard, Mette M; Eyjolfssson, Gudmundur I GI; Sigurdardottir, Olof O; Thorarinsson, Bjorn L BL; Matthiasson, Stefan E SE; Steingrimsdottir, Thora T; Bjornsson, Einar S ES; Danielsen, Ragnar R; Asselbergs, Folkert W FW; Arnar, David O DO; Ullum, Henrik H; Bundgaard, Henning H; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Thorgeirsson, Gudmundur G; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Publication Date: 2020-07-21

Variant appearance in text: ABCG8: Arg543Ser; rs201690654
PubMed Link: 32702746
Variant Present in the following documents:
  • Main text
  • ehaa531.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: ABCG8: 1629G>T; Arg543Ser
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.

Biochemical Society Transactions
Zein, Aiman A AA; Kaur, Rupinder R; Hussein, Toka O K TOK; Graf, Gregory A GA; Lee, Jyh-Yeuan JY
Publication Date: 2019-10-31

Variant appearance in text: ABCG8: R543S
PubMed Link: 31654053
Variant Present in the following documents:
  • Main text
  • BST-47-1259.pdf
View BVdb publication page



A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Research And Practice In Thrombosis And Haemostasis
Johnson, Ben B; Doak, Rachel R; Allsup, David D; Astwood, Emma E; Evans, Gillian G; Grimley, Charlotte C; James, Beki B; Myers, Bethan B; Stokley, Simone S; Thachil, Jecko J; Wilde, Jonathan J; Williams, Mike M; Makris, Mike M; Lowe, Gillian C GC; Wallis, Yvonne Y; Daly, Martina E ME; Morgan, Neil V NV; ,
Publication Date: 2018-10

Variant appearance in text: ABCG8: 1629G>T; Arg543Ser; rs201690654
PubMed Link: 30349881
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.

Journal Of Atherosclerosis And Thrombosis
Tada, Hayato H; Nohara, Atsushi A; Inazu, Akihiro A; Sakuma, Nagahiko N; Mabuchi, Hiroshi H; Kawashiri, Masa-Aki MA
Publication Date: 2018-09-01

Variant appearance in text: ABCG8: R543S
PubMed Link: 30033951
Variant Present in the following documents:
  • jat-25-783.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ABCG8: 1629G>T; R543S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Crystal structure of the human sterol transporter ABCG5/ABCG8.

Nature
Lee, Jyh-Yeuan JY; Kinch, Lisa N LN; Borek, Dominika M DM; Wang, Jin J; Wang, Junmei J; Urbatsch, Ina L IL; Xie, Xiao-Song XS; Grishin, Nikolai V NV; Cohen, Jonathan C JC; Otwinowski, Zbyszek Z; Hobbs, Helen H HH; Rosenbaum, Daniel M DM
Publication Date: 2016-05-26

Variant appearance in text: ABCG8: R543S
PubMed Link: 27144356
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: rs201690654
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: ABCG8: R543S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: ABCG8: R543S
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

American Journal Of Human Genetics
Lu, K K; Lee, M H MH; Hazard, S S; Brooks-Wilson, A A; Hidaka, H H; Kojima, H H; Ose, L L; Stalenhoef, A F AF; Mietinnen, T T; Bjorkhem, I I; Bruckert, E E; Pandya, A A; Brewer, H B HB; Salen, G G; Dean, M M; Srivastava, A A; Patel, S B SB
Publication Date: 2001-08

Variant appearance in text: ABCG8: Arg543Ser
PubMed Link: 11452359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic basis of sitosterolemia.

Current Opinion In Lipidology
Lee, M H MH; Lu, K K; Patel, S B SB
Publication Date: 2001-04

Variant appearance in text: ABCG8: Arg543Ser
PubMed Link: 11264985
Variant Present in the following documents:
  • Main text
View BVdb publication page