KCNH2 c.206T>A ;(p.L69Q)

Variant ID: 7-150671900-A-T

NM_000238.3(KCNH2):c.206T>A;(p.L69Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine
Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL
Publication Date: 2020-10

Variant appearance in text: KCNH2: L69Q
PubMed Link: 32927274
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



The mutation L69P in the PAS domain of the hERG potassium channel results in LQTS by trafficking deficiency.

Channels (Austin, Tex.)
Jenewein, Tina T; Kanner, Scott A SA; Bauer, Daniel D; Hertel, Brigitte B; Colecraft, Henry M HM; Moroni, Anna A; Thiel, Gerhard G; Kauferstein, Silke S
Publication Date: 2020-12

Variant appearance in text: rs199473665
PubMed Link: 32253972
Variant Present in the following documents:
  • Main text
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: KCNH2: L69Q
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page