intermembrane lipid transfer protein VPS13B isoform 1 [Homo sapiens]

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A Novel Variant in VPS13B Underlying Cohen Syndrome. [Biomed Res Int. 2023]
A Novel Variant in VPS13B Underlying Cohen Syndrome.
Hussain A, Acharya A, Bharadwaj T, Genomics UOWCFM, Leal SM, Khaliq A, Mir A, Schrauwen I. Biomed Res Int. 2023; 2023:9993801. Epub 2023 Apr 12.
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome. [Sci Rep. 2022]
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M, Kühnisch J, Bachmann S, Seifert W. Sci Rep. 2022 Jun 11; 12(1):9686. Epub 2022 Jun 11.
A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome. [J Mol Neurosci. 2021]
A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.
Karimzadeh MR, Omidi F, Sahebalzamani A, Saeidi K. J Mol Neurosci. 2021 Dec; 71(12):2566-2574. Epub 2021 May 26.

RefSeq genomic sequence
See the genomic reference sequence for the VPS13B gene (NG_007098.2).
RefSeq mRNA
See reference mRNA sequence for the VPS13B gene (NM_152564.5).

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NP_689777 [Domain Mapping of Disease Mut...]
NP_689777
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

intermembrane lipid transfer protein VPS13B isoform 1 [Homo sapiens]
intermembrane lipid transfer protein VPS13B isoform 1 [Homo sapiens]
gi|35493701|ref|NP_689777.3|

Protein
Homologene neighbors for GEO Profiles (Select 64929602) (0)
GEO Profiles
Homologene neighbors for GEO Profiles (Select 64934139) (0)
GEO Profiles
Homologene neighbors for GEO Profiles (Select 64920648) (0)
GEO Profiles
Profile neighbors for GEO Profiles (Select 64931582) (199)
GEO Profiles

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Protein