NCAN c.351C>A ;(p.P117=)

Variant ID: 19-19330001-C-A

NM_004386.2(NCAN):c.351C>A;(p.P117=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cold and heterogeneous T cell repertoire is associated with copy number aberrations and loss of immune genes in small-cell lung cancer.

Nature Communications
Chen, Ming M; Chen, Runzhe R; Jin, Ying Y; Li, Jun J; Hu, Xin X; Zhang, Jiexin J; Fujimoto, Junya J; Hubert, Shawna M SM; Gay, Carl M CM; Zhu, Bo B; Tian, Yanhua Y; McGranahan, Nicholas N; Lee, Won-Chul WC; George, Julie J; Hu, Xiao X; Chen, Yamei Y; Wu, Meijuan M; Behrens, Carmen C; Chow, Chi-Wan CW; Pham, Hoa H N HHN; Fukuoka, Junya J; Wu, Jia J; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Song, Xingzhi X; Wu, Chang-Jiun CJ; Diao, Lixia L; Wang, Qi Q; Cardnell, Robert R; Zhang, Jianhua J; Wang, Jing J; Le, Xiuning X; Gibbons, Don L DL; Heymach, John V JV; Jack Lee, J J; William, William N WN; Cheng, Chao C; Glisson, Bonnie B; Wistuba, Ignacio I; Andrew Futreal, P P; Thomas, Roman K RK; Reuben, Alexandre A; Byers, Lauren A LA; Zhang, Jianjun J
Publication Date: 2021-11-17

Variant appearance in text: NCAN: P117P
PubMed Link: 34789716
Variant Present in the following documents:
  • 41467_2021_26821_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One
Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y
Publication Date: 2014

Variant appearance in text: NCAN: P117P
PubMed Link: 24637876
Variant Present in the following documents:
  • pone.0091598.s005.pdf
View BVdb publication page