Homo sapiens bestrophin 1 (BEST1), transcript variant 7, mRNA

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Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy. [Invest Ophthalmol Vis Sci. 2023]
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.
Shi J, Tian L, Sun T, Zhang X, Xu K, Xie Y, Peng X, Tang X, Jin ZB, Li Y. Invest Ophthalmol Vis Sci. 2023 Sep 1; 64(12):37.
The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant. [Ophthalmol Retina. 2024]
The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Mauro L, Pina A, Bandello F, Battaglia Parodi M. Ophthalmol Retina. 2024 Mar; 8(3):288-297. Epub 2023 Sep 16.
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1. [Ophthalmic Genet. 2024]
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
Dhoble P, Robson AG, Webster AR, Michaelides M. Ophthalmic Genet. 2024 Feb; 45(1):38-43. Epub 2023 Mar 13.

RefSeq alternative splicing
See 13 reference mRNA sequence splice variants for the BEST1 gene.
RefSeq protein product
See the reference protein sequence for bestrophin-1 isoform 6 (NP_001350521.1).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
BioSystems
BioSystems
CCDS
Link to Consensus CDS
Components (Core)
Links to Core components
Full text in PMC
Free full text articles in PMC
Functional Class
Functional class of the sequence domain architecture
Gene
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OMIM
OMIM records associated with Nucleotide sequence
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
Links to pubmed

Ensembl [Ensembl]
Ensembl
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UCSC Genome Browser [UCSC Genome Browser]
UCSC Genome Browser