Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1182R
Back to variants list

COL4A5

NM_033380.3:p.G1182R

Associated Papers

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China.

Zhou C et al.

Frontiers in Genetics, 2025

Mutational analysis of type IV collagen alpha5 chain, with respect to heterotrimer formation.

Kobayashi T et al.

Biochemical and Biophysical Research Communications, 2008

Prenatal diagnosis of Alport syndrome.

Nomura S et al.

Genetic Counseling (geneva, Switzerland), 1997

[Alport syndrome].

Kawai S et al.

Ryoikibetsu Shokogun Shirizu, 1997

Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network.

Naito I et al.

Kidney International, 1996

The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

Kawai S et al.

Kidney International, 1996

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."