retinitis pigmentosa 1, partial [Homo sapiens]

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RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. [Medicina (Kaunas). 2024]
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
D'Esposito F, Randazzo V, Vega MI, Esposito G, Maltese PE, Torregrossa S, Scibetta P, Listì F, Gagliano C, Scalia L, et al. Medicina (Kaunas). 2024 Feb 1; 60(2). Epub 2024 Feb 1.
Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS). [Gene. 2023]
Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).
Lázaro-Guevara JM, Flores-Robles BJ, Garrido-Lopez KM, McKeown RJ, Flores-Morán AE, Labrador-Sánchez E, Pinillos-Aransay V, Trasahedo EA, López-Martín JA, Soberanis LSR, et al. Gene. 2023 Jan 30; 851:146956. Epub 2022 Oct 27.
In Silico identification of a common mobile element insertion in exon 4 of RP1. [Sci Rep. 2021]
In Silico identification of a common mobile element insertion in exon 4 of RP1.
Won D, Hwang JY, Shim Y, Byeon SH, Lee J, Lee CS, Kim M, Lim HT, Choi JR, Lee ST, et al. Sci Rep. 2021 Jun 28; 11(1):13381. Epub 2021 Jun 28.

RefSeq genomic sequence
See the genomic reference sequence for the RP1 gene (NG_009840.3).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the RP1 gene.

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Protein