Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.R130P
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SRY

NM_003140.3:p.R130P

Associated Papers

Functional analysis of SRY variants in individuals with 46,XY differences of sex development.

Idris FP et al.

Molecular and Cellular Endocrinology, 2025

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

Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats.

Stachowiak M et al.

Scientific Reports, 2022

Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.

Racca JD et al.

Frontiers in Endocrinology, 2022

36568077 (PubMed )
Supplement: DataSheet_1.pdf

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.

De Sousa SM et al.

Bmc Endocrine Disorders, 2016

Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive).

Nowacka-Woszuk J et al.

Animal Reproduction Science, 2014

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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."