retinoblastoma-like protein 2 isoform 1 [Homo sapiens]

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Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer. [PLoS One. 2022]
Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer.
Ullah F, Khurshid N, Fatimi Q, Loidl P, Saeed M. PLoS One. 2022; 17(4):e0266196. Epub 2022 Apr 6.
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function. [J Hum Genet. 2021]
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, et al. J Hum Genet. 2021 Nov; 66(11):1101-1112. Epub 2021 May 13.
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder. [Ann Clin Transl Neurol. 2020]
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
Brunet T, Radivojkov-Blagojevic M, Lichtner P, Kraus V, Meitinger T, Wagner M. Ann Clin Transl Neurol. 2020 Mar; 7(3):390-396. Epub 2020 Feb 27.

RefSeq mRNA
See reference mRNA sequence for the RBL2 gene (NM_005611.4).
RefSeq protein isoforms
See 9 reference sequence protein isoforms for the RBL2 gene.

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NP_005602 [Domain Mapping of Disease Mut...]
NP_005602
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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