RYR1 c.487C>A ;(p.R163S)

Variant ID: 19-38934851-C-A

NM_000540.2(RYR1):c.487C>A;(p.R163S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15

Variant appearance in text: RYR1: Arg163Ser
PubMed Link: 35218560
Variant Present in the following documents:
  • IJC-151-240-s001.xlsx, sheet 7
View BVdb publication page



Calsequestrin: a well-known but curious protein in skeletal muscle.

Experimental & Molecular Medicine
Woo, Jin Seok JS; Jeong, Seung Yeon SY; Park, Ji Hee JH; Choi, Jun Hee JH; Lee, Eun Hui EH
Publication Date: 2020-12

Variant appearance in text: RYR1: R163S
PubMed Link: 33288873
Variant Present in the following documents:
  • 12276_2020_Article_535.pdf
View BVdb publication page



Calsequestrin: a well-known but curious protein in skeletal muscle.

Experimental & Molecular Medicine
Woo, Jin Seok JS; Jeong, Seung Yeon SY; Park, Ji Hee JH; Choi, Jun Hee JH; Lee, Eun Hui EH
Publication Date: 2020-12

Variant appearance in text: RYR1: R163S
PubMed Link: 33288873
Variant Present in the following documents:
  • 12276_2020_Article_535.pdf
View BVdb publication page