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PAH c.686A>G ;(p.D229G)
Variant ID: 12-103248934-T-C
NM_000277.1(
PAH
):c.686A>G;(p.D229G)
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:
Bending of DNA duplexes with mutation motifs.
Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Růžička, Michal M; Souček, Přemysl P; Kulhánek, Petr P; Radová, Lenka L; Fajkusová, Lenka L; Réblová, Kamila K
Publication Date: 2019-08-01
Variant appearance in text: PAH: 686A>G; Asp229Gly
PubMed Link:
31230075
Variant Present in the following documents:
Main text
View BVdb publication page
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.
Genes
Pecimonova, Martina M; Kluckova, Daniela D; Csicsay, Frantisek F; Reblova, Kamila K; Krahulec, Jan J; Procházkova, Dagmar D; Skultety, Ludovit L; Kadasi, Ludevit L; Soltysova, Andrea A
Publication Date: 2019-06-15
Variant appearance in text: PAH: 686A>G; Asp229Gly
PubMed Link:
31208052
Variant Present in the following documents:
Main text
genes-10-00459.pdf
View BVdb publication page