FRAS1 c.4648C>T ;(p.L1550F)

Variant ID: 4-79343124-C-T

NM_025074.6(FRAS1):c.4648C>T;(p.L1550F)

This variant was identified in 8 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: FRAS1: L1550F; rs148663672
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17

Variant appearance in text: FRAS1: 4648C>T; Leu1550Phe
PubMed Link: 33726816
Variant Present in the following documents:
  • 13073_2021_855_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Cold Spring Harbor Molecular Case Studies
Thiffault, Isabelle I; Atherton, Andrea A; Heese, Bryce A BA; T Abdelmoity, Ahmed A; Pawar, Kailash K; Farrow, Emily E; Zellmer, Lee L; Miller, Neil N; Soden, Sarah S; Saunders, Carol C
Publication Date: 2020-06

Variant appearance in text: FRAS1: 4648C>T; L1550F; rs148663672
PubMed Link: 32358097
Variant Present in the following documents:
  • supp_mcs.a003970_Supplemental_Table.xlsx, sheet 3
  • supp_mcs.a003970_Supplemental_Table.xlsx, sheet 4
View BVdb publication page



Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

American Journal Of Human Genetics
Karolak, Justyna A JA; Vincent, Marie M; Deutsch, Gail G; Gambin, Tomasz T; Cogné, Benjamin B; Pichon, Olivier O; Vetrini, Francesco F; Mefford, Heather C HC; Dines, Jennifer N JN; Golden-Grant, Katie K; Dipple, Katrina K; Freed, Amanda S AS; Leppig, Kathleen A KA; Dishop, Megan M; Mowat, David D; Bennetts, Bruce B; Gifford, Andrew J AJ; Weber, Martin A MA; Lee, Anna F AF; Boerkoel, Cornelius F CF; Bartell, Tina M TM; Ward-Melver, Catherine C; Besnard, Thomas T; Petit, Florence F; Bache, Iben I; Tümer, Zeynep Z; Denis-Musquer, Marie M; Joubert, Madeleine M; Martinovic, Jelena J; Bénéteau, Claire C; Molin, Arnaud A; Carles, Dominique D; André, Gwenaelle G; Bieth, Eric E; Chassaing, Nicolas N; Devisme, Louise L; Chalabreysse, Lara L; Pasquier, Laurent L; Secq, Véronique V; Don, Massimiliano M; Orsaria, Maria M; Missirian, Chantal C; Mortreux, Jérémie J; Sanlaville, Damien D; Pons, Linda L; Küry, Sébastien S; Bézieau, Stéphane S; Liet, Jean-Michel JM; Joram, Nicolas N; Bihouée, Tiphaine T; Scott, Daryl A DA; Brown, Chester W CW; Scaglia, Fernando F; Tsai, Anne Chun-Hui AC; Grange, Dorothy K DK; Phillips, John A JA; Pfotenhauer, Jean P JP; Jhangiani, Shalini N SN; Gonzaga-Jauregui, Claudia G CG; Chung, Wendy K WK; Schauer, Galen M GM; Lipson, Mark H MH; Mercer, Catherine L CL; van Haeringen, Arie A; Liu, Qian Q; Popek, Edwina E; Coban Akdemir, Zeynep H ZH; Lupski, James R JR; Szafranski, Przemyslaw P; Isidor, Bertrand B; Le Caignec, Cedric C; Stankiewicz, Paweł P
Publication Date: 2019-02-07

Variant appearance in text: FRAS1: 4648C>T; Leu1550Phe
PubMed Link: 30639323
Variant Present in the following documents:
  • Main text
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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: FRAS1: L1550F; rs148663672
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: FRAS1: L1550F; rs148663672
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 6
  • srep46105-s2.xls, sheet 8
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: FRAS1: L1550F
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 21
View BVdb publication page