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PAH c.412_413delinsGC ;(p.Y138A)
Variant ID: 12-103271268-TA-GC
NM_000277.1(
PAH
):c.412_413delinsGC;(p.Y138A)
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:
Substituting Tyr138 in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation.
Febs Open Bio
Leandro, João J; Stokka, Anne J AJ; Teigen, Knut K; Andersen, Ole A OA; Flatmark, Torgeir T
Publication Date: 2017-07
Variant appearance in text: PAH: Y138A
PubMed Link:
28680815
Variant Present in the following documents:
Main text
FEB4-7-1026.pdf
View BVdb publication page