Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.A813V
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ATP6V0A2

NM_012463.4:p.A813V

Associated Papers

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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