Varaico: Literature-Extracted Genetic Variants

Gene:INSL3
Variant:p.P49S
Back to variants list

INSL3

NM_005543.4:p.P49S

Associated Papers

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.

McGlacken-Byrne SM et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Novel combined insulin-like 3 variations of a single nucleotide in cryptorchidism.

Sinopidis X et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Genetic analysis of the human Insulin-like 3 gene: absence of mutations in a Greek paediatric cohort with testicular maldescent.

Mamoulakis C et al.

Andrologia, 2014

Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations.

Ars E et al.

International Journal of Andrology, 2011

Morphogenetic targets and genetics of undescended testis.

Massart F et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2010

INSL3/RXFP2 signaling in testicular descent.

Feng S et al.

Annals of the New York Academy of Sciences, 2009

Hormonal and genetic control of testicular descent.

Ferlin A et al.

Reproductive Biomedicine Online, 2007

Genetic causes of male infertility.

Ferlin A et al.

Reproductive Toxicology (elmsford, N.y.), 2006

Cryptorchidism: an indicator of testicular dysgenesis?

Kaleva M et al.

Cell and Tissue Research, 2005

Mutation analysis of INSL3 and GREAT/LGR8 genes in familial cryptorchidism.

Feng S et al.

Urology, 2004

Insulin-like 3 signalling in testicular descent.

Adham IM et al.

International Journal of Andrology, 2004

GREAT/LGR8 is the only receptor for insulin-like 3 peptide.

Bogatcheva NV et al.

Molecular Endocrinology (baltimore, Md.), 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."