PAH c.571_572delinsGC ;(p.F191A)

Variant ID: 12-103249048-AA-GC

NM_000277.1(PAH):c.571_572delinsGC;(p.F191A)

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:

Exploring the Role of Phenylalanine Residues in Modulating the Flexibility and Topography of the Active Site in the Peroxygenase Variant PaDa-I.

International Journal Of Molecular Sciences
Ramirez-Ramirez, Joaquin J; Martin-Diaz, Javier J; Pastor, Nina N; Alcalde, Miguel M; Ayala, Marcela M
Publication Date: 2020-08-10

Variant appearance in text: PAH: F191A
PubMed Link: 32785123
Variant Present in the following documents:
  • Main text
  • ijms-21-05734.pdf
View BVdb publication page