ACTBL2 c.322G>A ;(p.E108K)

Variant ID: 5-56778213-C-T

NM_001017992.3(ACTBL2):c.322G>A;(p.E108K)

This variant was identified in 2 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: ACTBL2: E108K; rs73757391
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
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Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.

Human Molecular Genetics
Permuth, Jennifer B JB; Pirie, Ailith A; Ann Chen, Y Y; Lin, Hui-Yi HY; Reid, Brett M BM; Chen, Zhihua Z; Monteiro, Alvaro A; Dennis, Joe J; Mendoza-Fandino, Gustavo G; , ; , ; Anton-Culver, Hoda H; Bandera, Elisa V EV; Bisogna, Maria M; Brinton, Louise L; Brooks-Wilson, Angela A; Carney, Michael E ME; Chenevix-Trench, Georgia G; Cook, Linda S LS; Cramer, Daniel W DW; Cunningham, Julie M JM; Cybulski, Cezary C; D'Aloisio, Aimee A AA; Anne Doherty, Jennifer J; Earp, Madalene M; Edwards, Robert P RP; Fridley, Brooke L BL; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Goodman, Marc T MT; Gronwald, Jacek J; Hogdall, Estrid E; Iversen, Edwin S ES; Jakubowska, Anna A; Jensen, Allan A; Karlan, Beth Y BY; Kelemen, Linda E LE; Kjaer, Suzanne K SK; Kraft, Peter P; Le, Nhu D ND; Levine, Douglas A DA; Lissowska, Jolanta J; Lubinski, Jan J; Matsuo, Keitaro K; Menon, Usha U; Modugno, Rosemary R; Moysich, Kirsten B KB; Nakanishi, Toru T; Ness, Roberta B RB; Olson, Sara S; Orlow, Irene I; Pearce, Celeste L CL; Pejovic, Tanja T; Poole, Elizabeth M EM; Ramus, Susan J SJ; Anne Rossing, Mary M; Sandler, Dale P DP; Shu, Xiao-Ou XO; Song, Honglin H; Taylor, Jack A JA; Teo, Soo-Hwang SH; Terry, Kathryn L KL; Thompson, Pamela J PJ; Tworoger, Shelley S SS; Webb, Penelope M PM; Wentzensen, Nicolas N; Wilkens, Lynne R LR; Winham, Stacey S; Woo, Yin-Ling YL; Wu, Anna H AH; Yang, Hannah H; Zheng, Wei W; Ziogas, Argyrios A; Phelan, Catherine M CM; Schildkraut, Joellen M JM; Berchuck, Andrew A; Goode, Ellen L EL; Pharoah, Paul D P PD; Sellers, Thomas A TA; ,
Publication Date: 2016-08-15

Variant appearance in text: ACTBL2: E108K; rs73757391
PubMed Link: 27378695
Variant Present in the following documents:
  • Main text
View BVdb publication page