KCNH2 c.1957G>A ;(p.A653T)

Variant ID: 7-150648197-C-T

NM_000238.3(KCNH2):c.1957G>A;(p.A653T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: KCNH2: A653T
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: KCNH2: A653T
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



The evolutionarily conserved residue A653 plays a key role in HERG channel closing.

The Journal Of Physiology
Stepanovic, Svetlana Z SZ; Potet, Franck F; Petersen, Christina I CI; Smith, Jarrod A JA; Meiler, Jens J; Balser, Jeffrey R JR; Kupershmidt, Sabina S
Publication Date: 2009-06-01

Variant appearance in text: HERG: A653T
PubMed Link: 19406877
Variant Present in the following documents:
  • Main text
View BVdb publication page