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KCNQ1 c.1105C>T ;(p.P369S)
Variant ID: 11-2606514-C-T
NM_000218.2(
KCNQ1
):c.1105C>T;(p.P369S)
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:
The genetic causes of male infertility: a Middle East and North Africa perspective.
F1000Research
Duvuru, Ruthwik R; Halabi, Mouhammad M; Omolaoye, Temidayo S TS; Du Plessis, Stefan S SS
Publication Date: 2022
Variant appearance in text: KCNQ1: P369S
PubMed Link:
36405559
Variant Present in the following documents:
Main text
View BVdb publication page
Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.
American Journal Of Physiology. Heart And Circulatory Physiology
Chen, Jerri J; Liu, Zhenning Z; Creagh, John J; Zheng, Renjian R; McDonald, Thomas V TV
Publication Date: 2020-02-01
Variant appearance in text: KCNQ1: P369S
PubMed Link:
31834838
Variant Present in the following documents:
Main text
View BVdb publication page