KCNH2 c.934C>T ;(p.R312C)

Variant ID: 7-150654573-G-A

NM_000238.3(KCNH2):c.934C>T;(p.R312C)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: KCNH2: 934C>T; Arg312Cys; rs199472885
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: KCNH2: 934C>T; Arg312Cys
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: KCNH2: 934C>T; Arg312Cys; rs199472885
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: KCNH2: 934C>T; Arg312Cys
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: KCNH2: 934C>T; rs199472885
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing.

Nature Communications
Romero-Hidalgo, Sandra S; Ochoa-Leyva, Adrián A; Garcíarrubio, Alejandro A; Acuña-Alonzo, Victor V; Antúnez-Argüelles, Erika E; Balcazar-Quintero, Martha M; Barquera-Lozano, Rodrigo R; Carnevale, Alessandra A; Cornejo-Granados, Fernanda F; Fernández-López, Juan Carlos JC; García-Herrera, Rodrigo R; García-Ortíz, Humberto H; Granados-Silvestre, Ángeles Á; Granados, Julio J; Guerrero-Romero, Fernando F; Hernández-Lemus, Enrique E; León-Mimila, Paola P; Macín-Pérez, Gastón G; Martínez-Hernández, Angélica A; Menjivar, Marta M; Morett, Enrique E; Orozco, Lorena L; Ortíz-López, Guadalupe G; Pérez-Villatoro, Fernando F; Rivera-Morales, Javier J; Riveros-McKay, Fernando F; Villalobos-Comparán, Marisela M; Villamil-Ramírez, Hugo H; Villarreal-Molina, Teresa T; Canizales-Quinteros, Samuel S; Soberón, Xavier X
Publication Date: 2017-10-18

Variant appearance in text: KCNH2: R312C; rs199472885
PubMed Link: 29044207
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_1194.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: KCNH2: 934C>T; Arg312Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: LQT2: R312C
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KCNH2: R312C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology
Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW
Publication Date: 2014-11-27

Variant appearance in text: KCNH2: R312C
PubMed Link: 25428177
Variant Present in the following documents:
  • 40360_2014_350_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Interpreting secondary cardiac disease variants in an exome cohort.

Circulation. Cardiovascular Genetics
Ng, David D; Johnston, Jennifer J JJ; Teer, Jamie K JK; Singh, Larry N LN; Peller, Lindsey C LC; Wynter, Jamila S JS; Lewis, Katie L KL; Cooper, David N DN; Stenson, Peter D PD; Mullikin, James C JC; Biesecker, Leslie G LG; ,
Publication Date: 2013-08

Variant appearance in text: KCNH2: 934C>T; Arg312Cys
PubMed Link: 23861362
Variant Present in the following documents:
  • Main text
View BVdb publication page