RYR1 c.12177G>C ;(p.K4059N)

Variant ID: 19-39038955-G-C

NM_000540.2(RYR1):c.12177G>C;(p.K4059N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.

Iscience
Jung, Jewon J; Liao, Han H; Coker, Shannon A SA; Liang, Hong H; Hancock, John F JF; Denicourt, Catherine C; Venkatachalam, Kartik K
Publication Date: 2021-07-23

Variant appearance in text: RYR1: K4059N
PubMed Link: 34222845
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: RYR1: K4059N
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page