Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E319Q

PAH

1,542 papers

RefSeq Summary

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rat...

Pfam Domains

ACTaa 35–100UCSCACT domain
Biopterin_Haa 119–449UCSCBiopterin-dependent aromatic amino acid hydroxylase

Gene Aliases

HGNC Name

phenylalanine hydroxylase

HGNC Alias Symbol

PH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000277.3
p.E319Q
c.955G>C
Surrounding Variants
1 paper
NM_000277.3
p.S310_I318del9
c.928_953del27
8 papers
NM_000277.3
p.I318T
c.953T>C
1 paper
NM_000277.3
p.I318N
c.953T>A
1 paper
NM_000277.3
p.E319D
c.957A>T
1 paper
NM_000277.3
p.E319D
c.957A>C
24 papers
NM_000277.3
p.K320N
c.960G>T
25 papers
NM_000277.3
p.K320N
c.960G>C
1 paper
NM_000277.3
p.Y317H
c.949T>C
1 paper
NM_000277.3
p.Y317N
c.949T>A
5 papers
NM_000277.3
p.L321F
c.961C>T
4 papers
NM_000277.3
p.L321L
c.963C>T
1 paper
NM_000277.3
p.E316V
c.947A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."