Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.K457E
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KCNMA1

NM_001161352.2:p.K457E

Associated Papers

Structural mapping of patient-associated KCNMA1 gene variants.

Moldenhauer HJ et al.

Biophysical Journal, 2024

Structural mapping of patient-associated KCNMA1 gene variants.

Moldenhauer HJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Incorporating physics to overcome data scarcity in predictive modeling of protein function: A case study of BK channels.

Nordquist E et al.

Plos Computational Biology, 2023

37713443 (PubMed )
Supplement: pcbi.1011460.s001.pdf

Incorporating physics to overcome data scarcity in predictive modeling of protein function: a case study of BK channels.

Nordquist E et al.

Biorxiv : the Preprint Server for Biology, 2023

37425916 (PubMed )
Supplement: media-1.pdf

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Miller JP et al.

Channels (austin, Tex.), 2021

Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E.

Buckley C et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

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