Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.V60A
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SRY

NM_003140.3:p.V60A

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

Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.

Chen YS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.

Phillips NB et al.

The Journal of Biological Chemistry, 2011

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.

Jordan BK et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.

Okuhara K et al.

Journal of Human Genetics, 2000

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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."