Bibliome.ai browser hg19
Search
About
Stats
FAQ
MYH7 c.64G>A ;(p.E22K)
Variant ID: 14-23902878-C-T
NM_000257.2(
MYH7
):c.64G>A;(p.E22K)
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cryo-EM structure of the folded-back state of human β-cardiac myosin.
Biorxiv : The Preprint Server For Biology
Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J
Publication Date: 2023-04-18
Variant appearance in text: MYH7: E22K
PubMed Link:
37131793
Variant Present in the following documents:
Main text
nihpp-2023.04.15.536999v1.pdf
View BVdb publication page
Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.
Bmc Medical Genomics
Ye, Lihua L; Wang, Li L; Peng, Kexin K; Fang, Ou O; Tian, Zhen Z; Li, Caihua C; Fu, Xiaopeng X; Chen, Qingdong Q; Chen, Jia J; Luan, Jing J; Zhang, Zhenghua Z; Zhang, Qiaoan Q
Publication Date: 2022-08-05
Variant appearance in text: MYH7: 64G>A; Glu22Lys
PubMed Link:
35932013
Variant Present in the following documents:
12920_2022_1324_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10
Variant appearance in text: MYH7: E22K
PubMed Link:
35538087
Variant Present in the following documents:
41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page
Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.
International Journal Of Molecular Sciences
Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A
Publication Date: 2022-02-16
Variant appearance in text: MYH7: E22K
PubMed Link:
35216312
Variant Present in the following documents:
Main text
ijms-23-02195.pdf
View BVdb publication page
Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23
Variant appearance in text: MYH7: E22K
PubMed Link:
35197475
Variant Present in the following documents:
41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page
Ion Channel Impairment and Myofilament Ca2+ Sensitization: Two Parallel Mechanisms Underlying Arrhythmogenesis in Hypertrophic Cardiomyopathy.
Cells
Santini, Lorenzo L; Coppini, Raffaele R; Cerbai, Elisabetta E
Publication Date: 2021-10-18
Variant appearance in text: MYH7: E22K
PubMed Link:
34685769
Variant Present in the following documents:
cells-10-02789.pdf
View BVdb publication page
The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.
International Journal Of Molecular Sciences
Marston, Steven S
Publication Date: 2018-07-11
Variant appearance in text: MYH7: E22K
PubMed Link:
29997361
Variant Present in the following documents:
Main text
View BVdb publication page
Myofilament Calcium Sensitivity: Role in Regulation of In vivo Cardiac Contraction and Relaxation.
Frontiers In Physiology
Chung, Jae-Hoon JH; Biesiadecki, Brandon J BJ; Ziolo, Mark T MT; Davis, Jonathan P JP; Janssen, Paul M L PM
Publication Date: 2016
Variant appearance in text: MYH7: E22K
PubMed Link:
28018228
Variant Present in the following documents:
Main text
fphys-07-00562.pdf
View BVdb publication page
Thick and thin filament gene mutations in striated muscle diseases.
International Journal Of Molecular Sciences
Tajsharghi, Homa H
Publication Date: 2008-06
Variant appearance in text: MYH7: Glu22Lys
PubMed Link:
19325803
Variant Present in the following documents:
Main text
ijms-9-7-1259.pdf
View BVdb publication page
Thick and thin filament gene mutations in striated muscle diseases.
International Journal Of Molecular Sciences
Tajsharghi, Homa H
Publication Date: 2008-06
Variant appearance in text: MYH7: Glu22Lys
PubMed Link:
19325803
Variant Present in the following documents:
Main text
ijms-9-7-1259.pdf
View BVdb publication page