Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.C104F
Back to variants list

AVP

NM_000490.5:p.C104F

Associated Papers

Investigation of Fibrillar Aggregates Formed by Pathogenic Pre-pro-vasopressin Mutants that Cause ADNDI.

Vaizoglu RD et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature.

Feldkamp LLI et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020

Central diabetes insipidus.

Arima H et al.

Nagoya Journal of Medical Science, 2016

Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.

Duzenli D et al.

Endocrine, 2012

Familial neurohypophyseal diabetes insipidus--an update.

Christensen JH et al.

Seminars in Nephrology, 2006

Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.

Christensen JH et al.

European Journal of Human Genetics : Ejhg, 2004

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.

Rittig S et al.

American Journal of Human Genetics, 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."