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KCNH2 c.353A>C ;(p.E118A)
Variant ID: 7-150656779-T-G
NM_000238.3(
KCNH2
):c.353A>C;(p.E118A)
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:
Probing allosteric coupling in a constitutively open mutant of the ion channel KcsA using solid-state NMR.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Zhiyu Z; Xu, Yunyao Y; Zhang, Dongyu D; McDermott, Ann E AE
Publication Date: 2020-03-31
Variant appearance in text: HERG: E118A
PubMed Link:
32188782
Variant Present in the following documents:
Main text
View BVdb publication page
Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.
Plos One
Harley, Carol A CA; Jesus, Catarina S H CS; Carvalho, Ricardo R; Brito, Rui M M RM; Morais-Cabral, João H JH
Publication Date: 2012
Variant appearance in text: LQT2: E118A
PubMed Link:
22396785
Variant Present in the following documents:
Main text
pone.0032654.pdf
View BVdb publication page
Activation of Slo2.1 channels by niflumic acid.
The Journal Of General Physiology
Dai, Li L; Garg, Vivek V; Sanguinetti, Michael C MC
Publication Date: 2010-03
Variant appearance in text: HERG: E118A
PubMed Link:
20176855
Variant Present in the following documents:
JGP_200910316.pdf
View BVdb publication page