Homo sapiens TUB like protein 1 (TULP1), transcript variant 1, mRNA

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Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. [Acta Ophthalmol. 2023]
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
Majander A, Sankila EM, Falck A, Vasara LK, Seitsonen S, Kulmala M, Haavisto AK, Avela K, Turunen JA. Acta Ophthalmol. 2023 Mar; 101(2):215-221. Epub 2022 Sep 21.
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases. [Ophthalmic Genet. 2022]
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.
Al-Hindi H, Chauhan MZ, Sanders R, Samarah H, DeBenedictis M, Traboulsi E, Uwaydat SH. Ophthalmic Genet. 2022 Apr; 43(2):277-281. Epub 2021 Dec 5.
A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa. [Mol Vis. 2021]
A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
Woodard DR, Xing C, Ganne P, Liang H, Mahindrakar A, Sankurathri C, Hulleman JD, Mootha VV. Mol Vis. 2021; 27:179-190. Epub 2021 Apr 2.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the TULP1 gene (NM_001289395.2).
RefSeq protein product
See the reference protein sequence for tubby-related protein 1 isoform 1 (NP_003313.3).

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
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Free full text articles in PMC
Functional Class
Functional class of the sequence domain architecture
Gene
Link to related Genes
OMIM
OMIM records associated with Nucleotide sequence
Probe
Related Probe entry
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
Links to pubmed

Ensembl [Ensembl]
Ensembl
GenScript latest version of gene cDNA ORF Clone [GenScript latest version of g...]
GenScript latest version of gene cDNA ORF Clone
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Cognitive Neuroscience
Cognitive Neuroscience
Field of study concerning MENTAL PROCESSES; LEARNING; and the brain regions associated with them.<br/>Year introduced: 2016

MeSH
D000066494 (1)
MeSH

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Nucleotide