Homo sapiens exocyst complex component 6B (EXOC6B), transcript variant - Nucleotide

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EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity. [GeneReviews(®). 1993]
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity.
Bhavani GS, Singh S, Girisha KM. GeneReviews(®). 1993-2024. 2023 May 25
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing. [Neuro Oncol. 2023]
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing.
Demirdizen E, Al-Ali R, Narayanan A, Sun X, Varga JP, Steffl B, Brom M, Krunic D, Schmidt C, Schmidt G, et al. Neuro Oncol. 2023 Jun 2; 25(6):1031-1043.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. [Hum Mutat. 2022]
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, et al. Hum Mutat. 2022 Dec; 43(12):2116-2129. Epub 2022 Oct 8.

RefSeq protein product
See the reference protein sequence for exocyst complex component 6B isoform 4 (NP_001308660.1).

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Nucleotide