Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.Y129N
Back to variants list

SRY

NM_003140.3:p.Y129N

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

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

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

Hersmus R et al.

Plos One, 2012

22815844 (PubMed )
Supplement: pone.0040858.s001.xls › Sheet1

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.

Paris F et al.

Fertility and Sterility, 2007

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.

Assumpção JG et al.

Journal of Molecular Medicine (berlin, Germany), 2002

Equilibrium binding assays reveal the elevated stoichiometry and salt dependence of the interaction between full-length human sex-determining region on the Y chromosome (SRY) and DNA.

Baud S et al.

The Journal of Biological Chemistry, 2002

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."