SCARB1 c.956G>T ;(p.G319V)

Variant ID: 12-125292360-C-A

NM_005505.4(SCARB1):c.956G>T;(p.G319V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: SCARB1: G319V; rs150728540
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



SR-B1's Next Top Model: Structural Perspectives on the Functions of the HDL Receptor.

Current Atherosclerosis Reports
Powers, Hayley R HR; Sahoo, Daisy D
Publication Date: 2022-04

Variant appearance in text: SCARB1: G319V
PubMed Link: 35107765
Variant Present in the following documents:
  • Main text
  • 11883_2022_Article_1001.pdf
View BVdb publication page



SR-B1's Next Top Model: Structural Perspectives on the Functions of the HDL Receptor.

Current Atherosclerosis Reports
Powers, Hayley R HR; Sahoo, Daisy D
Publication Date: 2022-02-02

Variant appearance in text: SCARB1: G319V
PubMed Link: 35107765
Variant Present in the following documents:
  • Main text
  • 11883_2022_Article_1001.pdf
View BVdb publication page



SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies.

Biomedicines
Gracia-Rubio, Irene I; Martín, César C; Civeira, Fernando F; Cenarro, Ana A
Publication Date: 2021-05-27

Variant appearance in text: SCARB1: 956G>T; Gly319Val
PubMed Link: 34072125
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00612.pdf
View BVdb publication page



SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies.

Biomedicines
Irene, Gracia-Rubio GR; César, Martín M; Fernando, Civeira C; Ana, Cenarro C
Publication Date: 2021-05-27

Variant appearance in text: SCARB1: 956G>T; Gly319Val
PubMed Link: 34072125
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00612.pdf
View BVdb publication page



Human variant of scavenger receptor BI (R174C) exhibits impaired cholesterol transport functions.

Journal Of Lipid Research
May, Sarah C SC; Dron, Jacqueline S JS; Hegele, Robert A RA; Sahoo, Daisy D
Publication Date: 2021-02-09

Variant appearance in text: SR-BI: G319V
PubMed Link: 33577783
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Human variant of scavenger receptor BI (R174C) exhibits impaired cholesterol transport functions.

Journal Of Lipid Research
May, Sarah C SC; Dron, Jacqueline S JS; Hegele, Robert A RA; Sahoo, Daisy D
Publication Date: 2021

Variant appearance in text: SR-BI: G319V
PubMed Link: 33577783
Variant Present in the following documents:
  • Main text
  • main.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: SCARB1: 956G>T; Gly319Val
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



Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

European Heart Journal
Helgadottir, Anna A; Sulem, Patrick P; Thorgeirsson, Gudmundur G; Gretarsdottir, Solveig S; Thorleifsson, Gudmar G; Jensson, Brynjar Ö BÖ; Arnadottir, Gudny A GA; Olafsson, Isleifur I; Eyjolfsson, Gudmundur I GI; Sigurdardottir, Olof O; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Holm, Hilma H; Stefansson, Kari K
Publication Date: 2018-06-14

Variant appearance in text: SCARB1: G319V; rs150728540
PubMed Link: 29596577
Variant Present in the following documents:
  • Main text
  • ehy169.pdf
View BVdb publication page