PAH c.1156T>G ;(p.Y386D)

Variant ID: 12-103237467-A-C

NM_000277.1(PAH):c.1156T>G;(p.Y386D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: PAH: 1156T>G; Tyr386Asp
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Jimd Reports
Sarkissian, Christineh N CN; Gamez, Alejandra A; Scott, Patrick P; Dauvillier, Jerome J; Dorenbaum, Alejandro A; Scriver, Charles R CR; Stevens, Raymond C RC
Publication Date: 2012

Variant appearance in text: PAH: 1156T>G; Y386D
PubMed Link: 23430918
Variant Present in the following documents:
  • Main text
View BVdb publication page