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KCNQ1 c.388_389delinsGC ;(p.F130A)
Variant ID: 11-2549159-TT-GC
NM_000218.2(
KCNQ1
):c.388_389delinsGC;(p.F130A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Optimized tight binding between the S1 segment and KCNE3 is required for the constitutively open nature of the KCNQ1-KCNE3 channel complex.
Elife
Kasuya, Go G; Nakajo, Koichi K
Publication Date: 2022-11-04
Variant appearance in text: KCNQ1: F130A
PubMed Link:
36331187
Variant Present in the following documents:
Main text
elife-81683.pdf
View BVdb publication page
KCNQ1 subdomains involved in KCNE modulation revealed by an invertebrate KCNQ1 orthologue.
The Journal Of General Physiology
Nakajo, Koichi K; Nishino, Atsuo A; Okamura, Yasushi Y; Kubo, Yoshihiro Y
Publication Date: 2011-11
Variant appearance in text: KCNQ1: F130A
PubMed Link:
22042987
Variant Present in the following documents:
Main text
JGP_201110677.pdf
View BVdb publication page