Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.R76L
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SRY

NM_003140.3:p.R76L

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

Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.

Xu Y et al.

Orphanet Journal of Rare Diseases, 2024

39623453 (PubMed )
Supplement: 13023_2024_3472_MOESM1_ESM.docx

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

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Jiali C et al.

Frontiers in Genetics, 2024

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

33397924 (PubMed )
Supplement: 41467_2020_20194_MOESM2_ESM.pdf

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

Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.

Südbeck P et al.

The Journal of Biological Chemistry, 1997

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