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KCNQ1 c.1564_1565delinsGC ;(p.Y522A)
Variant ID: 11-2790123-TA-GC
NM_000218.2(
KCNQ1
):c.1564_1565delinsGC;(p.Y522A)
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:
Domain-to-domain coupling in voltage-sensing phosphatase.
Biophysics And Physicobiology
Sakata, Souhei S; Matsuda, Makoto M; Kawanabe, Akira A; Okamura, Yasushi Y
Publication Date: 2017
Variant appearance in text: KCNQ1: Y522A
PubMed Link:
28744425
Variant Present in the following documents:
Main text
14_85.pdf
View BVdb publication page