KCNH2 c.67G>A ;(p.E23K)

Variant ID: 7-150674935-C-T

NM_000238.3(KCNH2):c.67G>A;(p.E23K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Bibliometric analysis of potassium channel research.

Channels (Austin, Tex.)
Shi, Jingjing J; Shi, Shuqing S; Shi, Shuai S; Jia, Qiulei Q; Yuan, Guozhen G; Chu, Yuguang Y; Wang, Huan H; Hu, Yuanhui Y; Cui, Hanming H
Publication Date: 2020-12

Variant appearance in text: KCNH2: E23K
PubMed Link: 31842669
Variant Present in the following documents:
  • kchl-14-01-1705055.pdf
View BVdb publication page



eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.

Bmc Medical Genomics
Verma, Anurag A; Verma, Shefali S SS; Pendergrass, Sarah A SA; Crawford, Dana C DC; Crosslin, David R DR; Kuivaniemi, Helena H; Bush, William S WS; Bradford, Yuki Y; Kullo, Iftikhar I; Bielinski, Suzette J SJ; Li, Rongling R; Denny, Joshua C JC; Peissig, Peggy P; Hebbring, Scott S; De Andrade, Mariza M; Ritchie, Marylyn D MD; Tromp, Gerard G
Publication Date: 2016-08-12

Variant appearance in text: KCNH2: E23K
PubMed Link: 27535653
Variant Present in the following documents:
  • 12920_2016_Article_191.pdf
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: KCNH2: E23K
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Channelopathies.

Korean Journal Of Pediatrics
Kim, June-Bum JB
Publication Date: 2014-01

Variant appearance in text: KCNH2: E23K
PubMed Link: 24578711
Variant Present in the following documents:
  • Main text
  • kjped-57-1.pdf
View BVdb publication page



Genetic disorders of ion channels.

Missouri Medicine
Enkvetchakul, Decha D
Publication Date: 2010

Variant appearance in text: KCNH2: E23K
PubMed Link: 20806840
Variant Present in the following documents:
  • Main text
View BVdb publication page