F2 c.1369G>A ;(p.E457K)

Variant ID: 11-46750284-G-A

NM_000506.3(F2):c.1369G>A;(p.E457K)

This variant was identified in 2 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: E457K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.

Iscience
Tominaga, Kana K; Tominaga, Naoomi N; Williams, Eric O EO; Rufibach, Laura L; Schöwel, Verena V; Spuler, Simone S; Viswanathan, Mohan M; Guarente, Leonard P LP
Publication Date: 2022-01-21

Variant appearance in text: F2: E457K
PubMed Link: 35028538
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page