Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.M64T
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SRY

NM_003140.3:p.M64T

Associated Papers

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

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

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

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

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

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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."