CNGB1 Back

cyclic nucleotide gated channel beta 1

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NCBI Description of CNGB1
In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Two transcript variants encoding different isoforms have been found for this gene.

Community Annotation of CNGB1 Add / Edit CNGB1: Annotations

No community annotations yet for CNGB1.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CNGB1 is highly significantly mutated in
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CNGB1 is significantly mutated in
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CNGB1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for CNGB1