F2 c.1024T>C ;(p.F342L)

Variant ID: 11-46748281-T-C

NM_000506.3(F2):c.1024T>C;(p.F342L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: F2: F342L
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Nanoluciferase complementation-based bioreporter reveals the importance of N-linked glycosylation of SARS-CoV-2 S for viral entry.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Azad, Taha T; Singaravelu, Ragunath R; Taha, Zaid Z; Jamieson, Taylor R TR; Boulton, Stephen S; Crupi, Mathieu J F MJF; Martin, Nikolas T NT; Brown, Emily E F EEF; Poutou, Joanna J; Ghahremani, Mina M; Pelin, Adrian A; Nouri, Kazem K; Rezaei, Reza R; Marshall, Christopher Boyd CB; Enomoto, Masahiro M; Arulanandam, Rozanne R; Alluqmani, Nouf N; Samson, Reuben R; Gingras, Anne-Claude AC; Cameron, D William DW; Greer, Peter A PA; Ilkow, Carolina S CS; Diallo, Jean-Simon JS; Bell, John C JC
Publication Date: 2021-06-02

Variant appearance in text: F2: F342L
PubMed Link: 33578036
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
View BVdb publication page



Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Human Mutation
Herman, Matthew L ML; Farasat, Sharifeh S; Steinbach, Peter J PJ; Wei, Ming-Hui MH; Toure, Ousmane O; Fleckman, Philip P; Blake, Patrick P; Bale, Sherri J SJ; Toro, Jorge R JR
Publication Date: 2009-04

Variant appearance in text: F2: 1024T>C
PubMed Link: 19241467
Variant Present in the following documents:
  • Main text
View BVdb publication page