Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.Q114R
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SRY

NM_003140.3:p.Q114R

Associated Papers

Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.

Racca JD et al.

The Journal of Biological Chemistry, 2024

39168182 (PubMed )
Supplement: mmc1.docx

Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.

Pathak D et al.

Dna and Cell Biology, 2024

A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.

Andonova S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.

Helszer Z et al.

Gene, 2013

A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis.

Wang XB et al.

Asian Journal of Andrology, 0

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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."