FLG c.94G>T ;(p.E32*)

Variant ID: 1-152287839-C-A

NM_002016.1(FLG):c.94G>T;(p.E32*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.

Frontiers In Molecular Biosciences
Paul, Argho Aninda AA; Szulc, Natalia A NA; Kobiela, Adrian A; Brown, Sara J SJ; Pokrzywa, Wojciech W; Gutowska-Owsiak, Danuta D
Publication Date: 2023

Variant appearance in text: FLG: Glu32Ter
PubMed Link: 37200867
Variant Present in the following documents:
  • Main text
  • fmolb-10-1105678.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: FLG: E32X; rs114733570
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: FLG: E32X
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: FLG: 94G>T; Glu32*
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Bmc Cancer
Shahi, Rajendra Bahadur RB; De Brakeleer, Sylvia S; Caljon, Ben B; Pauwels, Ingrid I; Bonduelle, Maryse M; Joris, Sofie S; Fontaine, Christel C; Vanhoeij, Marian M; Van Dooren, Sonia S; Teugels, Erik E; De Grève, Jacques J
Publication Date: 2019-04-04

Variant appearance in text: FLG: 94G>T; Glu32*
PubMed Link: 30947698
Variant Present in the following documents:
  • 12885_2019_5494_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Torti, Erin E; Keren, Boris B; Palmer, Elizabeth E EE; Zhu, Zehua Z; Afenjar, Alexandra A; Anderson, Ilse J IJ; Andrews, Marisa V MV; Atkinson, Celia C; Au, Margaret M; Berry, Susan A SA; Bowling, Kevin M KM; Boyle, Jackie J; Buratti, Julien J; Cathey, Sara S SS; Charles, Perrine P; Cogne, Benjamin B; Courtin, Thomas T; Escobar, Luis F LF; Finley, Sabra Ledare SL; Graham, John M JM; Grange, Dorothy K DK; Heron, Delphine D; Hewson, Stacy S; Hiatt, Susan M SM; Hibbs, Kathleen A KA; Jayakar, Parul P; Kalsner, Louisa L; Larcher, Lise L; Lesca, Gaetan G; Mark, Paul R PR; Miller, Kathryn K; Nava, Caroline C; Nizon, Mathilde M; Pai, G Shashidhar GS; Pappas, John J; Parsons, Gretchen G; Payne, Katelyn K; Putoux, Audrey A; Rabin, Rachel R; Sabatier, Isabelle I; Shinawi, Marwan M; Shur, Natasha N; Skinner, Steven A SA; Valence, Stephanie S; Warren, Hannah H; Whalen, Sandra S; Crunk, Amy A; Douglas, Ganka G; Monaghan, Kristin G KG; Person, Richard E RE; Willaert, Rebecca R; Solomon, Benjamin D BD; Juusola, Jane J
Publication Date: 2019-09

Variant appearance in text: FLG: E32X
PubMed Link: 30739909
Variant Present in the following documents:
  • NIHMS1579844-supplement-Supplementary_Table_2_UPDATED_JAN_2019.xlsx, sheet 1
View BVdb publication page