Varaico: Literature-Extracted Genetic Variants

Gene:PKDREJ
Variant:p.R447G
Back to variants list

PKDREJ

NM_006071.2:p.R447G

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5

Evidence of amino acid diversity-enhancing selection within humans and among primates at the candidate sperm-receptor gene PKDREJ.

Hamm D et al.

American Journal of Human Genetics, 2007

RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.

Kanwal A et al.

Journal of Psychiatry & Neuroscience : Jpn, 0

36318984 (PubMed )
Supplement: JPN-220070-at-1.pdf
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."