Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.R76P
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SRY

NM_003140.3:p.R76P

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

A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.

Ambulkar PS et al.

Andrologia, 2021

Structural basis for nuclear import selectivity of pioneer transcription factor SOX2.

Jagga B et al.

Nature Communications, 2021

Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal.

Wang N et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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

70-kDa heat shock cognate protein hsc70 mediates calmodulin-dependent nuclear import of the sex-determining factor SRY.

Kaur G et al.

The Journal of Biological Chemistry, 2013

Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads.

Sim H et al.

Endocrinology, 2011

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

Knower KC et al.

Plos One, 2011

Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal.

Kaur G et al.

The Biochemical Journal, 2010

Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors.

Gontan C et al.

The Journal of Cell Biology, 2009

Boys, girls and shuttling of SRY and SOX9.

Sim H et al.

Trends in Endocrinology and Metabolism: Tem, 2008

Human SRY inhibits beta-catenin-mediated transcription.

Bernard P et al.

The International Journal of Biochemistry & Cell Biology, 2008

Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal.

Sim H et al.

Molecular Endocrinology (baltimore, Md.), 2005

Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

Harley VR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

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

Mitchell CL et al.

Molecular Genetics and Metabolism, 2002

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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."