Varaico: Literature-Extracted Genetic Variants

Gene:HRH1
Variant:p.M14I
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HRH1

NM_001098212.2:p.M14I

Associated Papers

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.

Vincent D et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Analysis of Missense Variants in the Human Histamine Receptor Family Reveals Increased Constitutive Activity of E4106.30×30K Variant in the Histamine H1 Receptor.

Ma X et al.

International Journal of Molecular Sciences, 2021

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Loules G et al.

Journal of Clinical Medicine, 2020

33114181 (PubMed )
Supplement: jcm-09-03402-s001.zip › jcm-959403-supplementary.xlsx › Table_S2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."