Homo sapiens usherin (USH2A), transcript variant 1, mRNA

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A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy. [BMC Ophthalmol. 2024]
A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.
Serra R, Rallo V, Steri M, Olla S, Piras MG, Marongiu M, Gorospe M, Schlessinger D, Pinna A, Fiorillo E, et al. BMC Ophthalmol. 2024 Jul 23; 24(1):306. Epub 2024 Jul 23.
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. [Orphanet J Rare Dis. 2024]
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.
Lin YW, Huang YS, Lin CY, Lin CW, Wu CC, Yang CH, Yang CM, Chen PL, Chen TC. Orphanet J Rare Dis. 2024 Jun 15; 19(1):238. Epub 2024 Jun 15.
Functional Vision in Patients With Biallelic USH2A Variants. [Am J Ophthalmol. 2024]
Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, et al. Am J Ophthalmol. 2024 Apr; 260:200-211. Epub 2023 Dec 21.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the USH2A gene (NM_206933.4).
RefSeq protein product
See the reference protein sequence for usherin isoform A precursor (NP_009054.6).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
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Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
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OMIM
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PubMed (RefSeq)
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Nucleotide