Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.Q847L
Back to variants list

GUCY2D

NM_000180.4:p.Q847L

Associated Papers

Patterns and mutational signatures of tandem base substitutions causing human inherited disease.

Chen JM et al.

Human Mutation, 2013

The dimerization domain in outer segment guanylate cyclase is a Ca²⁺-sensitive control switch module.

Zägel P et al.

Biochemistry, 2013

A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

Zhao X et al.

Molecular Vision, 2013

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

Xiao X et al.

Molecular Vision, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."