Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.K2906N
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CMYA5

NM_153610.5:p.K2906N

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Abelson S et al.

Science Advances, 2020

33298453 (PubMed )
Supplement: abe3722_Table_S3.xlsx › tab1

Sarcomeric Gene Variants and Their Role with Left Ventricular Dysfunction in Background of Coronary Artery Disease.

Kumar S et al.

Biomolecules, 2020

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Ryanodine receptors are part of the myospryn complex in cardiac muscle.

Benson MA et al.

Scientific Reports, 2017

Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction.

Kumar S et al.

Journal of Genetics, 2016

Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension.

Nakagami H et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."