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ITGA9 c.2722C>G ;(p.L908V)
Variant ID: 3-37821447-C-G
NM_002207.2(
ITGA9
):c.2722C>G;(p.L908V)
This variant was identified in 11 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.
Frontiers In Physiology
Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2022
Variant appearance in text: RLC: L908V
PubMed Link:
36225299
Variant Present in the following documents:
fphys-13-975076.pdf
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: RLC: L908V
PubMed Link:
35216312
Variant Present in the following documents:
Main text
ijms-23-02195.pdf
View BVdb publication page
Alpha and beta myosin isoforms and human atrial and ventricular contraction.
Cellular And Molecular Life Sciences : Cmls
Walklate, Jonathan J; Ferrantini, Cecilia C; Johnson, Chloe A CA; Tesi, Chiara C; Poggesi, Corrado C; Geeves, Michael A MA
Publication Date: 2021-12
Variant appearance in text: RLC: L908V
PubMed Link:
34704115
Variant Present in the following documents:
18_2021_Article_3971.pdf
View BVdb publication page
Alpha and beta myosin isoforms and human atrial and ventricular contraction.
Cellular And Molecular Life Sciences : Cmls
Walklate, Jonathan J; Ferrantini, Cecilia C; Johnson, Chloe A CA; Tesi, Chiara C; Poggesi, Corrado C; Geeves, Michael A MA
Publication Date: 2021-12
Variant appearance in text: RLC: L908V
PubMed Link:
34704115
Variant Present in the following documents:
18_2021_Article_3971.pdf
View BVdb publication page
Cardiac myosin contraction and mechanotransduction in health and disease.
The Journal Of Biological Chemistry
Barrick, Samantha K SK; Greenberg, Michael J MJ
Publication Date: 2021-11
Variant appearance in text: RLC: L908V
PubMed Link:
34634306
Variant Present in the following documents:
main.pdf
View BVdb publication page
Complexity in genetic cardiomyopathies and new approaches for mechanism-based precision medicine.
The Journal Of General Physiology
Greenberg, Michael J MJ; Tardiff, Jil C JC
Publication Date: 2021-03-01
Variant appearance in text: RLC: L908V
PubMed Link:
33512404
Variant Present in the following documents:
JGP_202012662.pdf
View BVdb publication page
β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity.
Nature Communications
Adhikari, Arjun S AS; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Song, Dan D; Kooiker, Kristina B KB; Bernstein, Daniel D; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2019-06-18
Variant appearance in text: RLC: L908V
PubMed Link:
31213605
Variant Present in the following documents:
41467_2019_Article_10555.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: RLC: L908V
PubMed Link:
29997361
Variant Present in the following documents:
Main text
ijms-19-02020.pdf
View BVdb publication page
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13
Variant appearance in text: RLC: L908V
PubMed Link:
28606303
Variant Present in the following documents:
Main text
elife-24634.pdf
View BVdb publication page
To understand muscle you must take it apart.
Frontiers In Physiology
Batters, Christopher C; Veigel, Claudia C; Homsher, Earl E; Sellers, James R JR
Publication Date: 2014
Variant appearance in text: RLC: L908V
PubMed Link:
24653704
Variant Present in the following documents:
fphys-05-00090.pdf
View BVdb publication page
Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motor.
Circulation Research
Moore, Jeffrey R JR; Leinwand, Leslie L; Warshaw, David M DM
Publication Date: 2012-07-20
Variant appearance in text: RLC: L908V
PubMed Link:
22821910
Variant Present in the following documents:
Main text
View BVdb publication page
Head-head and head-tail interaction: a general mechanism for switching off myosin II activity in cells.
Molecular Biology Of The Cell
Jung, Hyun Suk HS; Komatsu, Satoshi S; Ikebe, Mitsuo M; Craig, Roger R
Publication Date: 2008-08
Variant appearance in text: RLC: L908V
PubMed Link:
18495867
Variant Present in the following documents:
Main text
View BVdb publication page