HAND1 Back

heart and neural crest derivatives expressed 1

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NCBI Description of HAND1

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation.

Community Annotation of HAND1 Add / Edit HAND1: Annotations

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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

HAND1 is highly significantly mutated in
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HAND1 is significantly mutated in
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HAND1 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 HAND1