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AVP c.407A>C ;(p.D136A)
Variant ID: 20-3063364-T-G
NM_000490.4(
AVP
):c.407A>C;(p.D136A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Study of V2 vasopressin receptor hormone binding site using in silico methods.
Research In Pharmaceutical Sciences
Sebti, Yeganeh Y; Sardari, Soroush S; Sadeghi, Hamid Mir Mohammad HM; Ghahremani, Mohammad Hossein MH; Innamorati, Giulio G
Publication Date: 2015
Variant appearance in text: AVP: D136A
PubMed Link:
26600856
Variant Present in the following documents:
RPS-10-288.pdf
View BVdb publication page
The constitutively active V2 receptor mutants conferring NSIAD are weakly sensitive to agonist and antagonist regulation.
Plos One
Tenenbaum, Julie J; Ayoub, Mohammed A MA; Perkovska, Sanja S; Adra-Delenne, Anne-Laure AL; Mendre, Christiane C; Ranchin, Bruno B; Bricca, Giamperro G; Geelen, Ghislaine G; Mouillac, Bernard B; Durroux, Thierry T; Morin, Denis D
Publication Date: 2009-12-21
Variant appearance in text: AVP: D136A
PubMed Link:
20027297
Variant Present in the following documents:
Main text
pone.0008383.pdf
View BVdb publication page