Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L227Q

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
3 papers
NM_000277.3
p.L227Q
c.680T>A
Surrounding Variants
1 paper
NM_000277.3
p.L227P
c.680T>C
3 papers
NM_000277.3
p.L227V
c.679C>G
1 paper
NM_000277.3
p.L227M
c.679C>A
10 papers
NM_000277.3
p.Q226H
c.678G>T
4 papers
NM_000277.3
p.E228*
c.682G>T
10 papers
NM_000277.3
p.Q226H
c.678G>C
2 papers
NM_000277.3
p.E228K
c.682G>A
1 paper
NM_000277.3
p.E228G
c.683A>G
1 paper
NM_000277.3
p.Q226fs
c.676_677fs
1 paper
NM_000277.3
p.Q226*
c.676C>T
5 papers
NM_000277.3
p.Q226K
c.676C>A
2 papers
NM_000277.3
p.E228D
c.684A>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."