VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Disease: Sleep Apnea Syndromes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774870551
rs774870551
Entrez Id: 7414
Gene Symbol: VCL
VCL
CUI: C0037315
Disease:
Sleep Apnea Syndromes 		0.010 GeneticVariation BEFREE In HEK293 cells with pH 7.4, VCL-M94I caused ~30% decrease in peak sodium current (I<sub>Na</sub>) amplitude compared to WT; under acidotic conditions (pH 7.0) typically found with hypoxia during sleep apnea, M94I resulted in 37% reduction in peak I<sub>Na</sub> compared to WT and the combination of VCL-M94I and pH 7.0 decreased peak I<sub>Na</sub> by ~56% compared to WT at pH 7.4. 28218286 2017