 | | VARIANT: 2783v1 | |
| Entry |
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| Name |
GNB2 gain-of-function mutation
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| Type |
Gain of function
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| Gene |
GNB2 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 [KO: K04537]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
nt06544 Neuroactive ligand signaling |
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| Disease |
| H02885 | Neurodevelopmental disorder with hypotonia and dysmorphic facies |
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| Reference |
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| Authors |
Stallmeyer B, Kuss J, Kotthoff S, Zumhagen S, Vowinkel K, Rinne S, Matschke LA, Friedrich C, Schulze-Bahr E, Rust S, Seebohm G, Decher N, Schulze-Bahr E |
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| Title |
A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction. |
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| Journal |
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| Reference |
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| Authors |
Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H |
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| Title |
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. |
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| Journal |
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| LinkDB |
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