Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.K128R
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SRY

NM_003140.3:p.K128R

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

Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.

Pathak D et al.

Dna and Cell Biology, 2024

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

36568077 (PubMed )
Supplement: DataSheet_1.pdf

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

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

Hersmus R et al.

Plos One, 2012

A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.

Ibeagha-Awemu EM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008

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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."