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KCNH2 c.1534_1535delinsGC ;(p.I512A)
Variant ID: 7-150649535-AT-GC
NM_000238.3(
KCNH2
):c.1534_1535delinsGC;(p.I512A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mechanism of hERG inhibition by gating-modifier toxin, APETx1, deduced by functional characterization.
Bmc Molecular And Cell Biology
Matsumura, Kazuki K; Shimomura, Takushi T; Kubo, Yoshihiro Y; Oka, Takayuki T; Kobayashi, Naohiro N; Imai, Shunsuke S; Yanase, Naomi N; Akimoto, Madoka M; Fukuda, Masahiro M; Yokogawa, Mariko M; Ikeda, Kazuyoshi K; Kurita, Jun-Ichi JI; Nishimura, Yoshifumi Y; Shimada, Ichio I; Osawa, Masanori M
Publication Date: 2021-01-07
Variant appearance in text: HERG: I512A
PubMed Link:
33413079
Variant Present in the following documents:
12860_2020_Article_337.pdf
View BVdb publication page