Non-secretable SERPING1 variants [endoplasmic reticulum lumen]

Stable Identifier
Set [CandidateSet]
Homo sapiens
HAE type 1-causing SERPING1 variants
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
26248961 F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema

Speletas, M, Szilágyi, Á, Csuka, D, Koutsostathis, N, Psarros, F, Moldovan, D, Magerl, M, Kompoti, M, Varga, L, Maurer, M, Farkas, H, Germenis, AE

Allergy 2015
30398465 Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema

Haslund, D, Ryø, LB, Seidelin Majidi, S, Rose, I, Skipper, KA, Fryland, T, Bohn, AB, Koch, C, Thomsen, MK, Palarasah, Y, Corydon, TJ, Bygum, A, Nejsum, LN, Mikkelsen, JG

J. Clin. Invest. 2019
29753808 Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency

Loules, G, Zamanakou, M, Parsopoulou, F, Vatsiou, S, Psarros, F, Csuka, D, Porebski, G, Obtulowicz, K, Valerieva, A, Staevska, M, López-Lera, A, López-Trascasa, M, Moldovan, D, Magerl, M, Maurer, M, Speletas, M, Farkas, H, Germenis, AE

Gene 2018
14635117 Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema

Kalmár, L, Bors, A, Farkas, H, Vas, S, Fandl, B, Varga, L, Füst, G, Tordai, A

Hum. Mutat. 2003
7852321 COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization

Eldering, E, Verpy, E, Roem, D, Meo, T, Tosi, M

J. Biol. Chem. 1995
29343682 Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight

Caccia, S, Suffritti, C, Carzaniga, T, Berardelli, R, Berra, S, Martorana, V, Fra, A, Drouet, C, Cicardi, M

Sci Rep 2018
7814636 Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function

Verpy, E, Couture-Tosi, E, Eldering, E, López-Trascasa, M, Späth, P, Meo, T, Tosi, M

J. Clin. Invest. 1995
8755917 Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema

Verpy, E, Biasotto, M, Brai, M, Misiano, G, Meo, T, Tosi, M

Am. J. Hum. Genet. 1996
Name Identifier Synonyms
C1 inhibitor deficiency DOID:0060002 Quincke edema
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