RYR1 c.7468A>G ;(p.M2490V)

Variant ID: 19-38991484-A-G

NM_000540.2(RYR1):c.7468A>G;(p.M2490V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2019-09-19

Variant appearance in text: RYR1: M2490V
PubMed Link: 31537801
Variant Present in the following documents:
  • 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor.

Gastroenterology
Murphy, Stephen J SJ; Hart, Steven N SN; Lima, Joema Felipe JF; Kipp, Benjamin R BR; Klebig, Mitchell M; Winters, Jennifer L JL; Szabo, Csilla C; Zhang, Lizhi L; Eckloff, Bruce W BW; Petersen, Gloria M GM; Scherer, Steven E SE; Gibbs, Richard A RA; McWilliams, Robert R RR; Vasmatzis, George G; Couch, Fergus J FJ
Publication Date: 2013-11

Variant appearance in text: RYR1: M2490V
PubMed Link: 23912084
Variant Present in the following documents:
  • Main text
View BVdb publication page