ABCA7 c.2966G>A ;(p.R989H)

Variant ID: 19-1051944-G-A

NM_019112.3(ABCA7):c.2966G>A;(p.R989H)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


ATP-binding cassette protein ABCA7 deficiency impairs sphingomyelin synthesis, cognitive discrimination, and synaptic plasticity in the entorhinal cortex.

The Journal Of Biological Chemistry
Iqbal, Jahangir J; Suarez, Manuel D MD; Yadav, Pradeep K PK; Walsh, Meghan T MT; Li, Yimeng Y; Wu, Yiyang Y; Huang, Zhengwei Z; James, Antonisamy William AW; Escobar, Victor V; Mokbe, Ashwag A; Brickman, Adam M AM; Luchsinger, José A JA; Dai, Kezhi K; Moreno, Herman H; Hussain, M Mahmood MM
Publication Date: 2022-10

Variant appearance in text: ABCA7: R989H
PubMed Link: 36007616
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.

Acta Neuropathologica Communications
Bossaerts, Liene L; Hendrickx Van de Craen, Elisabeth E; Cacace, Rita R; Asselbergh, Bob B; Van Broeckhoven, Christine C
Publication Date: 2022-03-31

Variant appearance in text: ABCA7: R989H
PubMed Link: 35361255
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1346.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: ABCA7: R989H; rs139214131
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Genomic landscape of high-grade meningiomas.

Npj Genomic Medicine
Bi, Wenya Linda WL; Greenwald, Noah F NF; Abedalthagafi, Malak M; Wala, Jeremiah J; Gibson, Will J WJ; Agarwalla, Pankaj K PK; Horowitz, Peleg P; Schumacher, Steven E SE; Esaulova, Ekaterina E; Mei, Yu Y; Chevalier, Aaron A; Ducar, Matthew M; Thorner, Aaron R AR; van Hummelen, Paul P; Stemmer-Rachamimov, Anat A; Artyomov, Maksym M; Al-Mefty, Ossama O; Dunn, Gavin P GP; Santagata, Sandro S; Dunn, Ian F IF; Beroukhim, Rameen R
Publication Date: 2017

Variant appearance in text: ABCA7: 2966G>A; R989H; rs139214131
PubMed Link: 28713588
Variant Present in the following documents:
  • 41525_2017_14_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

Acta Neuropathologica
De Roeck, Arne A; Van den Bossche, Tobi T; van der Zee, Julie J; Verheijen, Jan J; De Coster, Wouter W; Van Dongen, Jasper J; Dillen, Lubina L; Baradaran-Heravi, Yalda Y; Heeman, Bavo B; Sanchez-Valle, Raquel R; Lladó, Albert A; Nacmias, Benedetta B; Sorbi, Sandro S; Gelpi, Ellen E; Grau-Rivera, Oriol O; Gómez-Tortosa, Estrella E; Pastor, Pau P; Ortega-Cubero, Sara S; Pastor, Maria A MA; Graff, Caroline C; Thonberg, Håkan H; Benussi, Luisa L; Ghidoni, Roberta R; Binetti, Giuliano G; de Mendonça, Alexandre A; Martins, Madalena M; Borroni, Barbara B; Padovani, Alessandro A; Almeida, Maria Rosário MR; Santana, Isabel I; Diehl-Schmid, Janine J; Alexopoulos, Panagiotis P; Clarimon, Jordi J; Lleó, Alberto A; Fortea, Juan J; Tsolaki, Magda M; Koutroumani, Maria M; Matěj, Radoslav R; Rohan, Zdenek Z; De Deyn, Peter P; Engelborghs, Sebastiaan S; Cras, Patrick P; Van Broeckhoven, Christine C; Sleegers, Kristel K; ,
Publication Date: 2017-09

Variant appearance in text: ABCA7: 2966G>A; Arg989His
PubMed Link: 28447221
Variant Present in the following documents:
  • 401_2017_1714_MOESM1_ESM.pdf
View BVdb publication page



Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.

Neurology. Genetics
Nuytemans, Karen K; Maldonado, Lizmarie L; Ali, Aleena A; John-Williams, Krista K; Beecham, Gary W GW; Martin, Eden E; Scott, William K WK; Vance, Jeffery M JM
Publication Date: 2016-02

Variant appearance in text: ABCA7: R989H
PubMed Link: 27066581
Variant Present in the following documents:
  • Main text
  • NG2015001263.pdf
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: ABCA7: R989H; rs139214131
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page