PAH c.139G>A ;(p.A47T)

Variant ID: 12-103306598-C-T

NM_000277.1(PAH):c.139G>A;(p.A47T)

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:

A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics.

Archives Of Biochemistry And Biophysics
Jaffe, Eileen K EK; Stith, Linda L; Lawrence, Sarah H SH; Andrake, Mark M; Dunbrack, Roland L RL
Publication Date: 2013-02-15

Variant appearance in text: PAH: A47T
PubMed Link: 23296088
Variant Present in the following documents:
  • Main text
View BVdb publication page