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KCNH2 c.1792_1794delinsCAA ;(p.N598Q)
Variant ID: 7-150648687-GTT-TTG
NM_000238.3(
KCNH2
):c.1792_1794delinsCAA;(p.N598Q)
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:
Importance of the Choice of a Recombinant System to Produce Large Amounts of Functional Membrane Protein hERG.
International Journal Of Molecular Sciences
Vasseur, Lucie L; Cens, Thierry T; Wagner, Renaud R; Saint, Nathalie N; Kugler, Valérie V; Chavanieu, Alain A; Ouvry, Christine C; Dupré, Clémence C; Ferry, Gilles G; Boutin, Jean A JA
Publication Date: 2019-06-28
Variant appearance in text: Kv11.1: N598Q
PubMed Link:
31261773
Variant Present in the following documents:
Main text
ijms-20-03181.pdf
View BVdb publication page
Trafficking-deficient hERG K⁺ channels linked to long QT syndrome are regulated by a microtubule-dependent quality control compartment in the ER.
American Journal Of Physiology. Cell Physiology
Smith, Jennifer L JL; McBride, Christie M CM; Nataraj, Parvathi S PS; Bartos, Daniel C DC; January, Craig T CT; Delisle, Brian P BP
Publication Date: 2011-07
Variant appearance in text: LQT2: N598Q
PubMed Link:
21490315
Variant Present in the following documents:
Main text
View BVdb publication page
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
The Journal Of Biological Chemistry
Gong, Qiuming Q; Jones, Melanie A MA; Zhou, Zhengfeng Z
Publication Date: 2006-02-17
Variant appearance in text: LQT2: N598Q
PubMed Link:
16361248
Variant Present in the following documents:
Main text
View BVdb publication page