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AKAP6 c.4959T>G ;(p.S1653R)
Variant ID: 14-33291978-T-G
NM_004274.4(
AKAP6
):c.4959T>G;(p.S1653R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Form follows function: polymorphisms in mAKAP alter cardiac cAMP/PKA signaling.
American Journal Of Physiology. Heart And Circulatory Physiology
Paruchuri, Sailaja S; Thodeti, Charles K CK
Publication Date: 2018-09-01
Variant appearance in text: mAKAP: S1653R
PubMed Link:
29727216
Variant Present in the following documents:
Main text
View BVdb publication page
Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling.
American Journal Of Physiology. Heart And Circulatory Physiology
Suryavanshi, Santosh V SV; Jadhav, Shweta M SM; Anderson, Kody L KL; Katsonis, Panagiotis P; Lichtarge, Olivier O; McConnell, Bradley K BK
Publication Date: 2018-07-01
Variant appearance in text: mAKAP: S1653R
PubMed Link:
29600899
Variant Present in the following documents:
Main text
View BVdb publication page