Varaico: Literature-Extracted Genetic Variants

Gene:KCNU1
Variant:p.N916S
Back to variants list

KCNU1

NM_001031836.3:p.N916S

Associated Papers

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_8

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Detection and interpretation of shared genetic influences on 42 human traits.

Pickrell JK et al.

Nature Genetics, 2016

27182965 (PubMed )
Supplement: NIHMS780506-supplement-7.pdf

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

HERC5 is a prognostic biomarker for post-liver transplant recurrent human hepatocellular carcinoma.

Xue F et al.

Journal of Translational Medicine, 2015

26653219 (PubMed )
Supplement: 12967_2015_743_MOESM1_ESM.xlsx › Table_S4
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."