KCNH2 c.1601_1602delinsAA ;(p.R534Q)

Variant ID: 7-150648879-GC-TT

NM_000238.3(KCNH2):c.1601_1602delinsAA;(p.R534Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications
Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK
Publication Date: 2022-11-05

Variant appearance in text: KCNH2: Arg534Gln
PubMed Link: 36335097
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tryptophan scanning mutagenesis of the HERG K+ channel: the S4 domain is loosely packed and likely to be lipid exposed.

The Journal Of Physiology
Subbiah, Rajesh N RN; Kondo, Mari M; Campbell, Terence J TJ; Vandenberg, Jamie I JI
Publication Date: 2005-12-01

Variant appearance in text: HERG: R534Q
PubMed Link: 16166152
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis of slow activation of the human ether-a-go-go related gene potassium channel.

The Journal Of Physiology
Subbiah, Rajesh N RN; Clarke, Catherine E CE; Smith, David J DJ; Zhao, JingTing J; Campbell, Terence J TJ; Vandenberg, Jamie I JI
Publication Date: 2004-07-15

Variant appearance in text: HERG: R534Q
PubMed Link: 15181157
Variant Present in the following documents:
  • Main text
View BVdb publication page