KCNH2 c.1771G>C ;(p.D591H)

Variant ID: 7-150648710-C-G

NM_000238.3(KCNH2):c.1771G>C;(p.D591H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Predicting hERG repolarization power at 37°C from recordings at room temperature.

Clinical And Translational Medicine
Oliveira-Mendes, Barbara B R BBR; Alameh, Malak M; Montnach, Jérôme J; Ollivier, Béatrice B; Gibaud, Solène S; Feliciangeli, Sylvain S; Lesage, Florian F; Charpentier, Flavien F; Loussouarn, Gildas G; De Waard, Michel M; Baró, Isabelle I
Publication Date: 2023-05

Variant appearance in text: KCNH2: D591H
PubMed Link: 37199999
Variant Present in the following documents:
  • Main text
  • CTM2-13-e1266.pdf
  • CTM2-13-e1266-s001.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: KCNH2: 1771G>C; Asp591His
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.

Clinical And Translational Medicine
Oliveira-Mendes, Barbara B; Feliciangeli, Sylvain S; Ménard, Mélissa M; Chatelain, Frank F; Alameh, Malak M; Montnach, Jérôme J; Nicolas, Sébastien S; Ollivier, Béatrice B; Barc, Julien J; Baró, Isabelle I; Schott, Jean-Jacques JJ; Probst, Vincent V; Kyndt, Florence F; Denjoy, Isabelle I; Lesage, Florian F; Loussouarn, Gildas G; De Waard, Michel M
Publication Date: 2021-11

Variant appearance in text: LQT2: 1771G>C
PubMed Link: 34841674
Variant Present in the following documents:
  • Main text
  • CTM2-11-e609.pdf
  • CTM2-11-e609-s001.pdf
View BVdb publication page



MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.

Bmc Genomics
Cai, Weijing W; Zhou, Dapeng D; Wu, Weibo W; Tan, Wen Ling WL; Wang, Jiaqian J; Zhou, Caicun C; Lou, Yanyan Y
Publication Date: 2018-08-03

Variant appearance in text: KCNH2: D591H
PubMed Link: 30075702
Variant Present in the following documents:
  • 12864_2018_4958_MOESM4_ESM.xlsx, sheet 1
  • 12864_2018_4958_MOESM5_ESM.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: KCNH2: D591H
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: KCNH2: D591H; rs376319070
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page