KCNK6 c.153C>A ;(p.S51R)

Variant ID: 19-38810743-C-A

NM_004823.1(KCNK6):c.153C>A;(p.S51R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: KCNK6: S51R
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine
Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H
Publication Date: 2017-04-14

Variant appearance in text: KCNK6: S51R
PubMed Link: 28408749
Variant Present in the following documents:
  • emm20179x1.xlsx, sheet 4
View BVdb publication page