Identity
HGNC
LOCATION
11q12.1
LOCUSID
ALIAS
C1IN,C1INH,C1NH,HAE1,HAE2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 710
MIM: 606860
HGNC: 1228
Ensembl: ENSG00000149131
Variants:
dbSNP: 710
ClinVar: 710
TCGA: ENSG00000149131
COSMIC: SERPING1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38182098 | 2024 | Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An Italian Survey. | 0 |
| 38254961 | 2024 | Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization. | 0 |
| 38182098 | 2024 | Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An Italian Survey. | 0 |
| 38254961 | 2024 | Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization. | 0 |
| 36385678 | 2023 | Interplay between C1-inhibitor and group IIA secreted phospholipase A(2) impairs their respective function. | 0 |
| 36787826 | 2023 | Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor. | 1 |
| 37620742 | 2023 | Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort. | 3 |
| 37716525 | 2023 | Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course, and Therapy. | 0 |
| 36385678 | 2023 | Interplay between C1-inhibitor and group IIA secreted phospholipase A(2) impairs their respective function. | 0 |
| 36787826 | 2023 | Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor. | 1 |
| 37620742 | 2023 | Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort. | 3 |
| 37716525 | 2023 | Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course, and Therapy. | 0 |
| 32896191 | 2022 | Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations). | 3 |
| 34348603 | 2022 | C1-Inhibitor: Structure, Functional Diversity and Therapeutic Development. | 10 |
| 34844023 | 2022 | Angioedema Due to Acquired Deficiency of C1-Inhibitor: A Cohort Study in Spain and a Comparison With Other Series. | 6 |
Citation
Dessen P
SERPING1 (serpin family G member 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-08-01
Online version: http://atlasgeneticsoncology.org/gene/55836/serping1-(serpin-family-g-member-1)
