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KCNH2 c.1935G>C ;(p.M645I)
Variant ID: 7-150648546-C-G
NM_000238.3(
KCNH2
):c.1935G>C;(p.M645I)
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:
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: M645I
PubMed Link:
36339618
Variant Present in the following documents:
fphar-13-1010119.pdf
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: M645I
PubMed Link:
27619418
Variant Present in the following documents:
Main text
JGP_201611625.pdf
View BVdb publication page