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KCNH2 c.1942G>A ;(p.G648S)
Variant ID: 7-150648539-C-T
NM_000238.3(
KCNH2
):c.1942G>A;(p.G648S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022
Variant appearance in text: KCNH2: G648S
PubMed Link:
36339618
Variant Present in the following documents:
fphar-13-1010119.pdf
View BVdb publication page
Pseudopolymorphic Wide Complex Tachycardia in a Child With Long QT Syndrome.
Jacc. Case Reports
Cerrone, Marina M; Magnani, Silvia S; Borneman, Linda L; Cecchin, Frank F; Tan, Reina R; Fowler, Steven J SJ; Chinitz, Larry L; Jankelson, Lior L
Publication Date: 2020-04
Variant appearance in text: LQT2: G648S
PubMed Link:
34317300
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: LQT2: G648S
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
Pore size matters for potassium channel conductance.
The Journal Of General Physiology
Naranjo, David D; Moldenhauer, Hans H; Pincuntureo, Matías M; Díaz-Franulic, Ignacio I
Publication Date: 2016-10
Variant appearance in text: KCNH2: G648S
PubMed Link:
27619418
Variant Present in the following documents:
Main text
JGP_201611625.pdf
View BVdb publication page