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OBSCN

Chr 1q42.13

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Aliases:
KIAA1556, UNC89, KIAA1639, ARHGEF30
MANE:
ENST00000680850.1
OMIM: 608616 ↗NCBI: 84033 ↗Ensembl ↗

Predicted protein structure

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We have HGNC metadata for this gene, but the deeper annotations (ClinVar, gnomAD, PanelApp, …) populate when someone uses the GenoLens extension to look up this gene. Install the extension or check back in a moment.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.