AVP c.385_387delinsGAC ;(p.R129D)

Variant ID: 20-3063384-CCG-GTC

NM_000490.4(AVP):c.385_387delinsGAC;(p.R129D)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Dimerization and enzymatic activity of fungal 17beta-hydroxysteroid dehydrogenase from the short-chain dehydrogenase/reductase superfamily.

Bmc Biochemistry
Kristan, Katja K; Deluca, Dominga D; Adamski, Jerzy J; Stojan, Jure J; Rizner, Tea Lanisnik TL
Publication Date: 2005-12-16

Variant appearance in text: ADH: Arg129Asp
PubMed Link: 16359545
Variant Present in the following documents:
  • Main text
  • 1471-2091-6-28.pdf
View BVdb publication page