Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.S201F
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ACTC1

NM_005159.5:p.S201F

Associated Papers

Structural Organization of the Retriever-CCC Endosomal Recycling Complex.

Boesch DJ et al.

Biorxiv : the Preprint Server for Biology, 2023

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S10.xls › Sheet1

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

Hawley MH et al.

Human Mutation, 2020

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
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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."