Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.I68T
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SRY

NM_003140.3:p.I68T

Associated Papers

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. I. SRY and Swyer Syndrome at the Edge of Ambiguity.

Chen YS et al.

Frontiers in Endocrinology, 2022

35957822 (PubMed )
Supplement: DataSheet_1.pdf

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

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

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

Mitchell CL et al.

Molecular Genetics and Metabolism, 2002

An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction.

Peters R et al.

Biochemistry, 1995

Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY.

Haqq CM et al.

Science (new York, N.y.), 1994

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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."