AVP c.379_380delinsTT ;(p.S127F)

Variant ID: 20-3063391-CT-AA

NM_000490.4(AVP):c.379_380delinsTT;(p.S127F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional Rescue of a Nephrogenic Diabetes Insipidus Causing Mutation in the V2 Vasopressin Receptor by Specific Antagonist and Agonist Pharmacochaperones.

Frontiers In Pharmacology
Szalai, Laura L; Sziráki, András A; Erdélyi, László Sándor LS; Kovács, Kinga Bernadett KB; Tóth, Miklós M; Tóth, András Dávid AD; Turu, Gábor G; Bonnet, Dominique D; Mouillac, Bernard B; Hunyady, László L; Balla, András A
Publication Date: 2022

Variant appearance in text: AVP: S127F
PubMed Link: 35153784
Variant Present in the following documents:
  • Main text
  • fphar-13-811836.pdf
View BVdb publication page