Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.K106I
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SRY

NM_003140.3:p.K106I

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

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

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.

Underwood A et al.

Genes, 2023

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Zawerton A et al.

American Journal of Human Genetics, 2019

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

Interaction of normal and mutant SRY proteins with DNA.

Rimini R et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 1995

DNA binding activity of recombinant SRY from normal males and XY females.

Harley VR et al.

Science (new York, N.y.), 1992

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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."