Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.K53I
Back to variants list

SRY

NM_003140.3:p.K53I

Associated Papers

In silico functional, structural, and pathogenicity assessment of single nucleotide polymorphisms in the human SOX9 gene.

Shadhin MST et al.

Scientific Reports, 2025

In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.

Ramgir SS et al.

Journal of Obstetrics and Gynaecology of India, 2024

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.

Calvache CA et al.

Frontiers in Pediatrics, 2022

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Knower KC et al.

Plos One, 2011

The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].

Harley VR et al.

Endocrine Reviews, 2003

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."