Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.K92M
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SRY

NM_003140.3:p.K92M

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 diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.

Nagaraja MR et al.

Systems Biology in Reproductive Medicine, 2019

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

22815844 (PubMed )
Supplement: pone.0040858.s001.xls › Sheet1

Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.

Shahid M et al.

Fertility and Sterility, 2008

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