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AKAP9 c.3849G>C ;(p.Q1283H)
Variant ID: 7-91651563-G-C
NM_005751.4(
AKAP9
):c.3849G>C;(p.Q1283H)
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:
Ankyrin-B Q1283H Variant Linked to Arrhythmias Via Loss of Local Protein Phosphatase 2A Activity Causes Ryanodine Receptor Hyperphosphorylation.
Circulation
Zhu, Wengen W; Wang, Cen C; Hu, Jinzhu J; Wan, Rong R; Yu, Jianhua J; Xie, Jinyan J; Ma, Jianyong J; Guo, Linjuan L; Ge, Jin J; Qiu, Yumin Y; Chen, Leifeng L; Liu, Hualong H; Yan, Xia X; Liu, Xiuxia X; Ye, Jin J; He, Wenfeng W; Shen, Yang Y; Wang, Chao C; Mohler, Peter J PJ; Hong, Kui K
Publication Date: 2018-12-04
Variant appearance in text: AKAP9: Q1283H
PubMed Link:
30571258
Variant Present in the following documents:
Main text
cir-138-2682-s001.pdf
cir-138-2682.pdf
View BVdb publication page