Varaico: Literature-Extracted Genetic Variants

Gene:GUCY1A1
Variant:p.R420*
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GUCY1A1

NM_001130682.3:p.R420*

Associated Papers

Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.

Guey S et al.

Human Genomics, 2023

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.

Wallace S et al.

Clinical Genetics, 2016

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

Seki M et al.

Nature Communications, 2015

26138366 (PubMed )
Supplement: ncomms8557-s3.xlsx › Sheet1

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
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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."