Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.K1591*
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CACNA1F

NM_001256789.3:p.K1591*

Associated Papers

Role of the C-terminal domain in modifying pH-dependent regulation of Cav1.4 Ca2+ channels.

de la Rosa Vázquez J et al.

Channels (austin, Tex.), 2025

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

Mahmood U et al.

Genes, 2021

Interactions with PDZ proteins diversify voltage-gated calcium channel signaling.

Wang S et al.

Journal of Neuroscience Research, 2021

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.

Sadeh TT et al.

Frontiers in Genetics, 2021

33584831 (PubMed )
Supplement: Data_Sheet_1.PDF

Splicing of an automodulatory domain in Cav1.4 Ca2+ channels confers distinct regulation by calmodulin.

Williams B et al.

The Journal of General Physiology, 2018

Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.

Waldner DM et al.

Biomed Research International, 2018

Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina.

Haeseleer F et al.

The Journal of Biological Chemistry, 2016

Towards a Unified Theory of Calmodulin Regulation (Calmodulation) of Voltage-Gated Calcium and Sodium Channels.

Ben-Johny M et al.

Current Molecular Pharmacology, 2015

Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing.

Joiner ML et al.

Current Molecular Pharmacology, 2015

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

Stockner T et al.

Biochimica Et Biophysica Acta, 2013

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.

Striessnig J et al.

Pflugers Archiv : European Journal of Physiology, 2010

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ et al.

Sub-cellular Biochemistry, 2007

C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels.

Singh A et al.

Nature Neuroscience, 2006

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Strom TM et al.

Nature Genetics, 1998

The Ca(v)1.4 calcium channel: more than meets the eye.

Doering CJ et al.

Channels (austin, Tex.), 0

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