AKAP9 c.6565G>A ;(p.V2189I)

Variant ID: 7-91700276-G-A

NM_005751.4(AKAP9):c.6565G>A;(p.V2189I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj
Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A
Publication Date: 2021

Variant appearance in text: AKAP9: V2189I
PubMed Link: 33552729
Variant Present in the following documents:
  • peerj-09-10711-s004.xlsx, sheet 1
View BVdb publication page



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: V2189I
PubMed Link: 30571258
Variant Present in the following documents:
  • Main text
  • cir-138-2682.pdf
  • cir-138-2682-s001.pdf
View BVdb publication page