Varaico: Literature-Extracted Genetic Variants

Gene:PRKG1
Variant:p.H509Y
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PRKG1

NM_006258.4:p.H509Y

Associated Papers

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.

Lam KK et al.

Genes, Chromosomes & Cancer, 2021

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

Guo DC et al.

American Journal of Human Genetics, 2013

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S4

Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing.

Zang ZJ et al.

Cancer Research, 2011

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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."