Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.R133G
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SRY

NM_003140.3:p.R133G

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

Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.

Wang X et al.

Gene, 2018

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.

Cunha JL et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2011

Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.

Shahid M et al.

Fertility and Sterility, 2008

A new familial mutation (R133G) in the SRY gene.

Plaseska-Karanfilska D et al.

Clinical Genetics, 2007

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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."