Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM3
Variant:p.P1244L
Back to variants list

SHROOM3

NM_020859.4:p.P1244L

Associated Papers

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.

Zhu H et al.

Genome Research, 2025

Clinical and Metabolic Signatures of FAM47E-SHROOM3 Haplotypes in a General Population Sample.

Ghasemi-Semeskandeh D et al.

Kidney International Reports, 2025

Pathogenic variants in SHROOM3 associated with hemifacial microsomia.

Li Q et al.

Journal of Human Genetics, 2025

Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families.

Xu L et al.

Frontiers in Genetics, 2022

Genetic susceptibility of hypertension-induced kidney disease.

Zhang C et al.

Physiological Reports, 2021

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD.

Prokop JW et al.

Journal of the American Society of Nephrology : Jasn, 2018

Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity.

Yeo NC et al.

Genome Research, 2015

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."