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KCNH2 c.1297_1298delinsGC ;(p.L433A)
Variant ID: 7-150649772-AG-GC
NM_000238.3(
KCNH2
):c.1297_1298delinsGC;(p.L433A)
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:
The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.
The Journal Of Biological Chemistry
Phan, Kevin K; Ng, Chai Ann CA; David, Erikka E; Shishmarev, Dmitry D; Kuchel, Philip W PW; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2017-05-05
Variant appearance in text: Kv11.1: L433A
PubMed Link:
28280240
Variant Present in the following documents:
Main text
View BVdb publication page