Varaico: Literature-Extracted Genetic Variants

Gene:KCNG2
Variant:p.V401_Y412del12
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KCNG2

NM_012283.2:p.V401_Y412del12

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.

Li J et al.

Frontiers in Immunology, 2025

40519929 (PubMed )
Supplement: Table2.xlsx › info_analysis

Whole genome sequencing identifies a deletion mutation in the unknown-functional KCNG2 from familial sick sinus syndrome.

Sun C et al.

Physiological Genomics, 2022

A Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.

Wentworth K et al.

Case Reports in Endocrinology, 2016

27579188 (PubMed )
Supplement: 2691385.f1.xlsx › Sheet1
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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."