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AVP c.164C>T ;(p.P55L)
Variant ID: 20-3063781-G-A
NM_000490.4(
AVP
):c.164C>T;(p.P55L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Central diabetes insipidus.
Nagoya Journal Of Medical Science
Arima, Hiroshi H; Azuma, Yoshinori Y; Morishita, Yoshiaki Y; Hagiwara, Daisuke D
Publication Date: 2016-12
Variant appearance in text: AVP: P55L
PubMed Link:
28008190
Variant Present in the following documents:
Main text
2186-3326-78-0349.pdf
View BVdb publication page
Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.
Frontiers In Physiology
Zhang, Chen C; Miller, Cassandra L CL; Gorkhali, Rakshya R; Zou, Juan J; Huang, Kenneth K; Brown, Edward M EM; Yang, Jenny J JJ
Publication Date: 2016
Variant appearance in text: ADH: P55L
PubMed Link:
27746744
Variant Present in the following documents:
Main text
fphys-07-00441.pdf
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: AVP: P55L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page