SERPING1 Back

serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)

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NCBI Description of SERPING1

This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform.

Community Annotation of SERPING1 Add / Edit SERPING1: 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

SERPING1 is highly significantly mutated in
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SERPING1 is significantly mutated in
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SERPING1 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 SERPING1