Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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